Variant report

Variant	rs12044706
Chromosome Location	chr1:146719649-146719650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr1:146719371-146719701	K562	blood:	n/a	n/a
2	SRF	chr1:146719542-146719758	K562	blood:	n/a	chr1:146719683-146719701
3	SPI1	chr1:146718505-146719730	HL-60	blood:	n/a	n/a
4	SRF	chr1:146719559-146719728	K562	blood:	n/a	chr1:146719683-146719701
5	SRF	chr1:146719523-146719737	HepG2	liver:	n/a	chr1:146719683-146719701
6	TCF7L2	chr1:146719404-146719663	HepG2	liver:	n/a	n/a
7	SRF	chr1:146719544-146719776	HepG2	liver:	n/a	chr1:146719683-146719701
8	IRF1	chr1:146719429-146719701	K562	blood:	n/a	n/a
9	EP300	chr1:146719436-146719660	K562	blood:	n/a	n/a
10	MAX	chr1:146718758-146719697	NB4	blood:	n/a	chr1:146719125-146719135
11	SRF	chr1:146719481-146719831	H1-hESC	embryonic stem cell:	n/a	chr1:146719683-146719701
12	CEBPB	chr1:146719606-146719676	K562	blood:	n/a	n/a
13	SRF	chr1:146719501-146719816	H1-hESC	embryonic stem cell:	n/a	chr1:146719683-146719701
14	TCF7L2	chr1:146719290-146719715	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:146626505..146628132-chr1:146717901..146720269,2	MCF-7	breast:
2	chr1:146556287..146558878-chr1:146718178..146719701,2	K562	blood:
3	chr1:146638562..146647588-chr1:146711453..146720391,22	K562	blood:
4	chr1:146714298..146719042-chr1:146719141..146722310,9	K562	blood:
5	chr1:146719589..146721253-chr1:146725226..146727361,2	K562	blood:

Variant related genes	Relation type
FMO5	TF binding region
ENSG00000131781	Chromatin interaction
ENSG00000131778	Chromatin interaction
ENSG00000131791	Chromatin interaction
ENSG00000237188	Chromatin interaction
ENSG00000271721	Chromatin interaction
ENSG00000273071	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10159076	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10900319	0.89[CHB][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10900331	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs11239952	0.98[ASN][1000 genomes]
rs12023167	1.00[EUR][1000 genomes]
rs12023638	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12023644	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12024575	0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12026060	1.00[EUR][1000 genomes]
rs12027580	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12029358	0.87[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12030403	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12031124	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12031956	0.89[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12032300	0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12032578	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12036480	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12037324	0.98[ASN][1000 genomes]
rs12038539	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs12038739	1.00[EUR][1000 genomes]
rs12039254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039364	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12039400	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12040321	0.86[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12041474	1.00[EUR][1000 genomes]
rs12047915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049109	0.89[CHB][hapmap];1.00[EUR][1000 genomes]
rs12239222	1.00[EUR][1000 genomes]
rs13375602	0.86[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2297751	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3766521	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56854335	1.00[EUR][1000 genomes]
rs59801063	0.84[ASN][1000 genomes]
rs6593766	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6655945	0.95[ASN][1000 genomes]
rs6657665	0.89[CHB][hapmap];1.00[EUR][1000 genomes]
rs6674562	0.89[CHB][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6681716	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs6690158	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6694020	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6696488	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72708581	0.92[ASN][1000 genomes]
rs74119821	1.00[EUR][1000 genomes]
rs74122342	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7512450	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7519377	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7521301	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9988435	0.89[CHB][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
7	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
15	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
17	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
19	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv872257	chr1:146643555-146724923	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv437047	chr1:146643555-146841602	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
22	nsv1005809	chr1:146647822-146886419	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv535134	chr1:146647822-146886419	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
25	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
26	nsv547676	chr1:146686228-146996047	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
27	nsv872259	chr1:146688941-146724923	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146715400-146722000	Weak transcription	Lung	lung
2	chr1:146715400-146724200	Weak transcription	Esophagus	oesophagus
3	chr1:146715600-146727400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:146715600-146736200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:146715600-146749400	Weak transcription	Colonic Mucosa	Colon
6	chr1:146715800-146731400	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:146715800-146756800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:146716000-146719800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:146716000-146720200	Weak transcription	HUVEC	blood vessel
10	chr1:146716000-146722000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:146716000-146724200	Weak transcription	Fetal Stomach	stomach
12	chr1:146716000-146726000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:146716000-146727200	Weak transcription	Fetal Intestine Large	intestine
14	chr1:146716000-146727200	Weak transcription	NH-A	brain
15	chr1:146716000-146727400	Weak transcription	Adipose Nuclei	Adipose
16	chr1:146716000-146727400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:146716000-146727400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:146716000-146727600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:146716000-146731600	Weak transcription	Fetal Kidney	kidney
20	chr1:146716000-146731800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:146716000-146732400	Weak transcription	Aorta	Aorta
22	chr1:146716000-146732400	Weak transcription	Fetal Brain Male	brain
23	chr1:146716000-146735600	Weak transcription	Ovary	ovary
24	chr1:146716000-146739600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:146716000-146743800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:146716200-146719800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:146716200-146727800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:146716200-146732200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:146716400-146724400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:146716400-146727400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:146716400-146732200	Weak transcription	NHLF	lung
32	chr1:146716600-146719800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:146716600-146731400	Weak transcription	Fetal Brain Female	brain
34	chr1:146716800-146719800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:146716800-146731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:146716800-146748600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:146717000-146726000	Weak transcription	A549	lung
38	chr1:146717200-146722000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:146717200-146724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:146717200-146727200	Weak transcription	NHDF-Ad	bronchial
41	chr1:146717200-146727200	Weak transcription	Osteobl	bone
42	chr1:146717200-146751000	Weak transcription	Gastric	stomach
43	chr1:146717600-146719800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:146717600-146721000	Enhancers	HepG2	liver
45	chr1:146717600-146730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:146717600-146736600	Weak transcription	Psoas Muscle	Psoas
47	chr1:146717800-146732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:146718000-146724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:146718600-146719800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:146718600-146719800	Enhancers	Primary T cells from cord blood	blood

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