Variant report

Variant	rs7212868
Chromosome Location	chr17:37608052-37608053
allele	A/C
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	YY1	chr17:37607963-37608097	K562	blood:	n/a	n/a
2	POLR2A	chr17:37608016-37608165	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:37606823-37609040	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr17:37608009-37608415	GM12891	blood:	n/a	n/a
5	MAX	chr17:37607094-37608346	A549	lung:	n/a	chr17:37607259-37607269
6	POLR2A	chr17:37607000-37608058	K562	blood:	n/a	n/a
7	REST	chr17:37606908-37608170	H1-neurons	neurons:	n/a	n/a
8	TCF7L2	chr17:37606906-37608144	HEK293	kidney:	n/a	chr17:37607634-37607643 chr17:37607631-37607647 chr17:37607635-37607644 chr17:37607632-37607646 chr17:37607635-37607645 chr17:37607631-37607647 chr17:37607632-37607646 chr17:37608112-37608119
9	POLR2A	chr17:37608031-37608341	GM12878	blood:	n/a	n/a
10	YY1	chr17:37607140-37608133	HepG2	liver:	n/a	chr17:37607715-37607725 chr17:37607491-37607513 chr17:37607487-37607496 chr17:37607492-37607500 chr17:37607491-37607501 chr17:37607490-37607502 chr17:37607715-37607725
11	POLR2A	chr17:37607986-37608618	GM12892	blood:	n/a	n/a
12	POLR2A	chr17:37608034-37608369	GM12892	blood:	n/a	n/a
13	ZBTB33	chr17:37607869-37608272	A549	lung:	n/a	n/a
14	POLR2A	chr17:37607972-37608407	GM12878	blood:	n/a	n/a
15	TCF7L2	chr17:37607157-37608136	Hela-S3	cervix:	n/a	chr17:37607634-37607643 chr17:37607631-37607647 chr17:37607635-37607644 chr17:37607632-37607646 chr17:37607635-37607645 chr17:37607631-37607647 chr17:37607632-37607646 chr17:37608112-37608119
16	POLR2A	chr17:37606768-37608899	HepG2	liver:	n/a	n/a
17	POLR2A	chr17:37607125-37608088	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37556967..37560024-chr17:37605171..37608348,4	K562	blood:
2	chr17:37557413..37559525-chr17:37605171..37609188,5	K562	blood:
3	chr17:37356852..37358951-chr17:37605399..37608667,3	MCF-7	breast:
4	chr17:37607607..37608191-chr6:3023656..3024509,2	NB4	blood:
5	chr17:37604386..37611889-chr17:37616048..37620931,25	K562	blood:
6	chr17:37605291..37610010-chr17:37614517..37620203,14	MCF-7	breast:
7	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:
8	chr17:37604291..37611614-chr17:37614953..37621274,26	K562	blood:

Variant related genes	Relation type
MED1	TF binding region
ENSG00000271361	Chromatin interaction
ENSG00000266469	Chromatin interaction
ENSG00000167258	Chromatin interaction
ENSG00000108298	Chromatin interaction
ENSG00000108306	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11078901	0.83[AFR][1000 genomes]
rs11650146	0.85[AFR][1000 genomes]
rs11659010	0.81[AFR][1000 genomes]
rs11867312	0.84[AFR][1000 genomes]
rs12943928	0.82[AFR][1000 genomes]
rs12947600	0.80[AFR][1000 genomes]
rs12947620	0.84[AFR][1000 genomes]
rs12950666	0.86[AFR][1000 genomes]
rs35112839	0.85[AFR][1000 genomes]
rs35497503	0.86[AFR][1000 genomes]
rs4390625	0.86[AFR][1000 genomes]
rs4794809	0.83[AFR][1000 genomes]
rs4795369	0.86[AMR][1000 genomes]
rs57448077	0.81[AFR][1000 genomes]
rs62075056	0.82[AFR][1000 genomes]
rs6503515	0.87[AFR][1000 genomes]
rs7212715	0.84[AFR][1000 genomes]
rs7223896	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription 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	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7212868	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs7212868	PGAP3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37606200-37608400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr17:37606400-37608200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr17:37606400-37608200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:37606400-37608200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:37606400-37608200	Active TSS	HSMM	muscle
6	chr17:37606400-37608200	Active TSS	NHLF	lung
7	chr17:37606400-37608400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr17:37606400-37608400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr17:37606400-37608400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr17:37606400-37608400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr17:37606400-37608400	Active TSS	Fetal Kidney	kidney
12	chr17:37606400-37608600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:37606600-37608200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:37606600-37608200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:37606600-37608200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:37606600-37608200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr17:37606600-37608200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:37606600-37608200	Active TSS	Aorta	Aorta
19	chr17:37606600-37608200	Active TSS	Ovary	ovary
20	chr17:37606600-37608200	Active TSS	Psoas Muscle	Psoas
21	chr17:37606600-37608200	Active TSS	Right Atrium	heart
22	chr17:37606600-37608400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr17:37606600-37608400	Active TSS	Colonic Mucosa	Colon
24	chr17:37606600-37608800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:37606800-37608200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:37606800-37608200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:37606800-37608200	Active TSS	Fetal Brain Female	brain
28	chr17:37606800-37608200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr17:37606800-37608200	Active TSS	Fetal Lung	lung
30	chr17:37606800-37608200	Active TSS	Lung	lung
31	chr17:37606800-37608200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr17:37606800-37608200	Active TSS	HSMMtube	muscle
33	chr17:37606800-37608200	Active TSS	NHDF-Ad	bronchial
34	chr17:37606800-37608400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:37606800-37608400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:37606800-37608400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr17:37606800-37608600	Active TSS	A549	lung
38	chr17:37606800-37608600	Active TSS	GM12878-XiMat	blood
39	chr17:37607000-37608200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:37607000-37608200	Active TSS	Brain Germinal Matrix	brain
41	chr17:37607000-37608200	Active TSS	Colon Smooth Muscle	Colon
42	chr17:37607000-37608200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr17:37607000-37608400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr17:37607000-37608400	Active TSS	Brain Cingulate Gyrus	brain
45	chr17:37607000-37608400	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr17:37607000-37608400	Active TSS	Rectal Smooth Muscle	rectum
47	chr17:37607000-37608400	Active TSS	NH-A	brain
48	chr17:37607200-37608200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:37607200-37608200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr17:37607200-37608200	Active TSS	Brain Anterior Caudate	brain

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