Variant report

Variant	rs7544247
Chromosome Location	chr1:66998351-66998352
allele	C/T
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	POLR2A	chr1:66996735-67003737	IMR90	lung:	n/a	n/a
2	POLR2A	chr1:66997970-67000478	HUVEC	blood vessel:	n/a	n/a
3	MAZ	chr1:66997994-67000458	IMR90	lung:	n/a	chr1:66998876-66998886
4	POLR2A	chr1:66997967-67000176	HUVEC	blood vessel:	n/a	n/a
5	MXI1	chr1:66998034-67001342	IMR90	lung:	n/a	n/a
6	USF1	chr1:66998345-66998675	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr1:66997255-67003973	IMR90	lung:	n/a	n/a
8	USF1	chr1:66998345-66998720	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr1:66998238-67000810	H1-neurons	neurons:	n/a	chr1:67000267-67000275 chr1:66999795-66999808 chr1:66999795-66999808 chr1:66999795-66999808 chr1:67000301-67000311

Variant related genes	Relation type
SGIP1	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10493408	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11208896	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11208898	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11208900	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11208901	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11208902	0.98[ASN][1000 genomes]
rs12022565	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12025668	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12040232	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043594	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12046904	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12048885	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12567898	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1338196	0.93[ASN][1000 genomes]
rs1338199	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1338201	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1338202	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1338203	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1338206	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1338207	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1445578	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1445579	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17129039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17129041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17129043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17129062	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17129064	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17129065	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4655614	0.94[ASN][1000 genomes]
rs4655616	0.98[ASN][1000 genomes]
rs57941297	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6664942	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6665299	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689119	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689313	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6693644	0.94[ASN][1000 genomes]
rs6697068	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6699123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916320	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72934129	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72934131	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72934142	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72934143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72934153	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7532400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7532613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7533806	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7533837	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7544505	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7549881	0.94[ASN][1000 genomes]
rs967324	0.97[ASN][1000 genomes]

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:66991800-66998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:66997400-66998400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:66997400-66998400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:66997400-66998400	Enhancers	Brain Substantia Nigra	brain
5	chr1:66997400-66998400	Weak transcription	Left Ventricle	heart
6	chr1:66997600-66998400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:66997600-66998600	Enhancers	Fetal Heart	heart
8	chr1:66997800-66998600	Enhancers	Fetal Brain Male	brain
9	chr1:66998000-66998400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr1:66998000-66998400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr1:66998000-66998400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr1:66998000-66998400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:66998000-66998600	Enhancers	Fetal Kidney	kidney
14	chr1:66998000-66999000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:66998200-66998400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
16	chr1:66998200-66998400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr1:66998200-66998400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:66998200-66998400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:66998200-66998400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr1:66998200-66998400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:66998200-66998400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr1:66998200-66998400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:66998200-66998400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:66998200-66998400	Enhancers	Brain Angular Gyrus	brain
25	chr1:66998200-66998400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:66998200-66998400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:66998200-66998400	Bivalent Enhancer	Fetal Stomach	stomach
28	chr1:66998200-66998400	Enhancers	Fetal Thymus	thymus
29	chr1:66998200-66998400	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:66998200-66998400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:66998200-66998400	Enhancers	Thymus	Thymus
32	chr1:66998200-66998400	Enhancers	NH-A	brain
33	chr1:66998200-66998400	Enhancers	NHEK	skin
34	chr1:66998200-66998600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:66998200-66998600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:66998200-66998600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
37	chr1:66998200-66998800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:66998200-66998800	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr1:66998200-66998800	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr1:66998200-66998800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr1:66998200-66998800	Flanking Active TSS	NHLF	lung
42	chr1:66998200-66998800	Flanking Active TSS	Osteobl	bone
43	chr1:66998200-66999000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:66998200-66999000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:66998200-66999000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:66998200-66999000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr1:66998200-66999200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
48	chr1:66998200-66999200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr1:66998200-66999400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr1:66998200-67000200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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