Variant report

Variant	rs4246528
Chromosome Location	chr1:151404848-151404849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	1:151402394-151411623..1:151496437-151509688	K562	blood:
2	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
3	chr1:151403820..151406171-chr1:151511893..151514319,2	MCF-7	breast:
4	chr1:151402377..151405267-chr1:151416084..151418421,2	MCF-7	breast:
5	chr1:151403924..151406134-chr1:151413187..151414813,2	MCF-7	breast:
6	1:151246650-151254384..1:151402394-151411623	GM12878	blood:
7	chr1:151400148..151402604-chr1:151403204..151405612,2	MCF-7	breast:
8	chr1:151403440..151406242-chr1:151583210..151585470,2	MCF-7	breast:
9	chr1:151371234..151374091-chr1:151403253..151406283,3	K562	blood:
10	chr1:151400556..151402238-chr1:151404299..151407025,2	K562	blood:
11	chr1:151371234..151373688-chr1:151402633..151405715,3	K562	blood:
12	1:151402394-151411623..1:151618750-151636526	GM12878	blood:
13	1:151254384-151268403..1:151402394-151411623	GM12878	blood:
14	chr1:151404848..151406397-chr1:151409975..151412744,2	MCF-7	breast:
15	chr1:151371427..151373843-chr1:151402656..151405068,2	MCF-7	breast:
16	chr1:151298919..151301179-chr1:151402872..151405310,2	MCF-7	breast:
17	1:151180715-151199990..1:151402394-151411623	GM12878	blood:
18	1:151203965-151215310..1:151402394-151411623	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000143442	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143373	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10749663	1.00[MEX][hapmap]
rs11204824	0.84[ASW][hapmap]
rs1418822	1.00[MEX][hapmap]
rs1539494	1.00[AMR][1000 genomes]
rs1752379	1.00[MEX][hapmap]
rs2337361	1.00[MEX][hapmap]
rs2479381	1.00[AMR][1000 genomes]
rs2479384	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2479386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2495379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2495390	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2495391	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864115	1.00[MEX][hapmap]
rs3001839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3001840	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs4970952	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4970959	1.00[MEX][hapmap]
rs6667714	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683010	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533032	1.00[MEX][hapmap]
rs9436030	0.83[AFR][1000 genomes]
rs9661205	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv872424	chr1:151325055-151413180	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv872425	chr1:151325055-151413790	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv2756864	chr1:151328794-151411635	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2758969	chr1:151328794-151411635	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv872429	chr1:151329138-151413180	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv8380	chr1:151329887-151410346	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv824575	chr1:151331533-151408096	Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv463761	chr1:151333167-151404848	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv463772	chr1:151333167-151404848	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv463783	chr1:151333167-151404848	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv463794	chr1:151333167-151404848	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv463805	chr1:151333167-151404848	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv463816	chr1:151333167-151404848	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv470737	chr1:151333167-151404848	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv547849	chr1:151333167-151404848	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv818467	chr1:151333167-151404848	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv463827	chr1:151333167-151413180	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv547850	chr1:151333167-151413180	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
23	nsv872430	chr1:151334796-151413180	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv463839	chr1:151338570-151404848	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv547851	chr1:151338570-151404848	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
26	nsv872431	chr1:151338570-151413180	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
27	nsv872432	chr1:151339196-151413180	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
28	nsv872433	chr1:151341417-151413180	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
29	nsv872434	chr1:151347820-151413180	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
30	nsv872435	chr1:151351060-151413180	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
31	nsv872436	chr1:151357333-151413180	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
32	nsv872437	chr1:151373065-151413180	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
33	nsv872438	chr1:151377407-151413180	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
34	nsv872439	chr1:151386465-151407693	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
35	nsv872440	chr1:151396037-151413180	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
36	esv1811070	chr1:151403570-151433317	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151373400-151416400	Weak transcription	Stomach Mucosa	stomach
2	chr1:151373800-151407000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:151374000-151405400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:151374000-151406800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:151384600-151406200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:151393000-151413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:151398400-151429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:151398600-151417400	Weak transcription	Fetal Heart	heart
9	chr1:151400800-151406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:151400800-151409600	Weak transcription	Psoas Muscle	Psoas
11	chr1:151400800-151417400	Weak transcription	Aorta	Aorta
12	chr1:151401000-151410000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:151401000-151412200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:151401000-151416200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:151401000-151430000	Weak transcription	Esophagus	oesophagus
16	chr1:151401200-151410000	Weak transcription	Gastric	stomach
17	chr1:151401400-151407400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:151401400-151407400	Weak transcription	Lung	lung
19	chr1:151401400-151409200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:151401400-151409400	Weak transcription	Right Ventricle	heart
21	chr1:151401400-151413000	Weak transcription	K562	blood
22	chr1:151401400-151413200	Weak transcription	Small Intestine	intestine
23	chr1:151401400-151417400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:151401600-151407400	Weak transcription	NHLF	lung
25	chr1:151401600-151411400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:151401600-151429200	Weak transcription	Spleen	Spleen
27	chr1:151402200-151413200	Weak transcription	Fetal Brain Male	brain
28	chr1:151402200-151416200	Weak transcription	Colonic Mucosa	Colon
29	chr1:151402400-151407400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:151402400-151409000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:151402800-151406800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:151402800-151408000	Weak transcription	NHDF-Ad	bronchial
33	chr1:151403200-151406200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:151403200-151406200	Weak transcription	Liver	Liver
35	chr1:151403200-151406400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:151403200-151406800	Weak transcription	Adipose Nuclei	Adipose
37	chr1:151403200-151406800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:151403200-151407200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:151403200-151407400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:151403200-151407400	Weak transcription	A549	lung
41	chr1:151403200-151407400	Weak transcription	Osteobl	bone
42	chr1:151403200-151408200	Weak transcription	Hela-S3	cervix
43	chr1:151403200-151408600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:151403200-151408800	Weak transcription	Brain Angular Gyrus	brain
45	chr1:151403200-151408800	Weak transcription	Brain Anterior Caudate	brain
46	chr1:151403200-151409000	Weak transcription	Placenta	Placenta
47	chr1:151403200-151409200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:151403200-151409400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:151403200-151409400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:151403200-151409400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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