Variant report

Variant	rs17440394
Chromosome Location	chr4:151787958-151787959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151784993..151786958-chr4:151786960..151788499,2	K562	blood:
2	chr4:151218929..151219669-chr4:151787911..151788691,3	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10008077	1.00[ASN][1000 genomes]
rs1148642	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201202	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027030	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027034	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027100	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027158	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1782360	0.82[CEU][hapmap]
rs186080	0.85[CEU][hapmap]
rs2122920	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294532	0.82[CEU][hapmap]
rs4696220	0.82[CEU][hapmap]
rs57218449	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57518605	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328072	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59572961	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102523	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60391819	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61258128	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61371689	1.00[ASN][1000 genomes]
rs61668839	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344564	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344565	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344567	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344568	0.91[EUR][1000 genomes]
rs62344569	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344571	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344572	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344573	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344578	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344579	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344582	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344596	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344597	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344598	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344605	1.00[ASN][1000 genomes]
rs62344646	1.00[ASN][1000 genomes]
rs62346260	1.00[ASN][1000 genomes]
rs62346265	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346268	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346294	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346295	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346297	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346301	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346303	1.00[ASN][1000 genomes]
rs62346304	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346305	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346306	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346307	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346308	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346309	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346311	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346337	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346338	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346341	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346345	0.91[EUR][1000 genomes]
rs62346346	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346348	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346349	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346350	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346351	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535743	1.00[ASN][1000 genomes]
rs6535744	1.00[ASN][1000 genomes]
rs6819868	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836017	0.82[CEU][hapmap]
rs716474	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859222	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859291	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859295	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665652	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677186	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958516	0.84[EUR][1000 genomes]
rs971640	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' 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	35 gene(s)	inside rSNPs	diseases
8	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers 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 lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription 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	31 gene(s)	inside rSNPs	diseases
13	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS 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	31 gene(s)	inside rSNPs	diseases
14	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
19	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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 lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv880576	chr4:151751369-151936149	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
24	nsv595688	chr4:151776717-151804857	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151743800-151795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:151748400-151795600	Weak transcription	Brain Angular Gyrus	brain
3	chr4:151749800-151795400	Weak transcription	Right Ventricle	heart
4	chr4:151749800-151795600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:151749800-151795600	Weak transcription	Gastric	stomach
6	chr4:151749800-151806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:151750200-151824200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:151750400-151795800	Weak transcription	Fetal Stomach	stomach
9	chr4:151750800-151795600	Weak transcription	Thymus	Thymus
10	chr4:151754200-151795400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:151761800-151794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:151761800-151795600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:151762200-151795600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:151763800-151823800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:151764400-151795400	Weak transcription	Fetal Intestine Large	intestine
16	chr4:151764400-151795400	Weak transcription	Pancreas	Pancrea
17	chr4:151767600-151806600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:151770800-151790600	Weak transcription	HUVEC	blood vessel
19	chr4:151770800-151795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:151771000-151795400	Weak transcription	HMEC	breast
21	chr4:151771000-151797400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:151772600-151806400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:151773200-151794600	Weak transcription	Placenta	Placenta
24	chr4:151773400-151795600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:151773600-151791600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:151773600-151797400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:151773600-151813000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:151773600-151813400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:151773800-151791000	Weak transcription	Liver	Liver
30	chr4:151773800-151791600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:151773800-151795600	Weak transcription	GM12878-XiMat	blood
32	chr4:151773800-151800800	Weak transcription	Hela-S3	cervix
33	chr4:151773800-151813800	Weak transcription	Fetal Kidney	kidney
34	chr4:151773800-151824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:151774000-151788200	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:151774000-151788800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:151774000-151788800	Weak transcription	Fetal Thymus	thymus
38	chr4:151774000-151789000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:151774000-151789200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:151774000-151791200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:151774000-151795400	Weak transcription	Left Ventricle	heart
42	chr4:151774000-151795400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:151774000-151796200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr4:151774000-151796200	Weak transcription	K562	blood
45	chr4:151774000-151801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:151774000-151805200	Weak transcription	Dnd41	blood
47	chr4:151774000-151805800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:151774000-151820200	Weak transcription	Adipose Nuclei	Adipose
49	chr4:151774000-151820400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:151774000-151838400	Weak transcription	HepG2	liver

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