Variant report

Variant	rs7657871
Chromosome Location	chr4:76650176-76650177
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:316)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:76649335-76650623	GM12891	blood:	n/a	n/a
2	YY1	chr4:76649148-76650624	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:76648296-76652105	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:76648906-76651006	HepG2	liver:	n/a	n/a
5	TRIM28	chr4:76649036-76650639	K562	blood:	n/a	n/a
6	POLR2A	chr4:76649342-76650633	ProgFib	skin:	n/a	n/a
7	CBX3	chr4:76650090-76650745	K562	blood:	n/a	n/a
8	MAX	chr4:76650127-76650605	SK-N-SH	brain:	n/a	chr4:76650419-76650429
9	SIN3AK20	chr4:76649135-76650733	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:76649377-76650527	A549	lung:	n/a	n/a
11	POLR2A	chr4:76649183-76650759	GM12892	blood:	n/a	n/a
12	CTCF	chr4:76648049-76650778	SK-N-SH	brain:	n/a	n/a
13	MYC	chr4:76648926-76650751	K562	blood:	n/a	chr4:76650419-76650429
14	HEY1	chr4:76649251-76650774	K562	blood:	n/a	n/a
15	MXI1	chr4:76648841-76650623	K562	blood:	n/a	n/a
16	POLR2A	chr4:76648663-76650582	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr4:76649094-76650817	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr4:76649305-76650561	PANC-1	pancreas:	n/a	n/a
19	CHD1	chr4:76649038-76650833	GM12878	blood:	n/a	n/a
20	MAX	chr4:76649062-76650692	A549	lung:	n/a	chr4:76650419-76650429
21	POLR2A	chr4:76649394-76651172	K562	blood:	n/a	n/a
22	TBL1XR1	chr4:76649104-76650651	GM12878	blood:	n/a	n/a
23	CREB1	chr4:76649086-76650678	HepG2	liver:	n/a	n/a
24	POLR2A	chr4:76649280-76650749	GM18951	blood:	n/a	n/a
25	ZNF143	chr4:76649118-76650662	GM12878	blood:	n/a	n/a
26	MAX	chr4:76650046-76650592	K562	blood:	n/a	chr4:76650419-76650429
27	POLR2A	chr4:76649288-76650673	HepG2	liver:	n/a	n/a
28	ELF1	chr4:76649383-76650564	GM12878	blood:	n/a	n/a
29	SIN3A	chr4:76648903-76651066	H1-hESC	embryonic stem cell:	n/a	n/a
30	CCNT2	chr4:76649208-76650532	K562	blood:	n/a	n/a
31	ZMIZ1	chr4:76649160-76650639	K562	blood:	n/a	n/a
32	ATF2	chr4:76650097-76650565	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:76649321-76650562	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr4:76648597-76650445	Hela-S3	cervix:	n/a	n/a
35	YY1	chr4:76649498-76650472	HepG2	liver:	n/a	n/a
36	YY1	chr4:76649458-76650427	SK-N-SH	brain:	n/a	n/a
37	HEY1	chr4:76649345-76650627	K562	blood:	n/a	n/a
38	POLR2A	chr4:76649358-76650597	Gliobla	brain:	n/a	n/a
39	MAX	chr4:76649116-76650599	ECC-1	luminal epithelium:	n/a	chr4:76650419-76650429
40	MAX	chr4:76649111-76650700	H1-hESC	embryonic stem cell:	n/a	chr4:76650419-76650429
41	RELA	chr4:76648886-76650726	GM18505	blood:	n/a	n/a
42	POLR2A	chr4:76649015-76651097	GM12891	blood:	n/a	n/a
43	MAX	chr4:76649158-76650651	K562	blood:	n/a	chr4:76650419-76650429
44	POLR2A	chr4:76649370-76650695	GM12878	blood:	n/a	n/a
45	CTBP2	chr4:76649271-76650668	H1-hESC	embryonic stem cell:	n/a	n/a
46	PML	chr4:76649065-76650819	K562	blood:	n/a	n/a
47	POLR2A	chr4:76648744-76651232	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr4:76649139-76650618	NB4	blood:	n/a	chr4:76650419-76650429
49	POLR2A	chr4:76649232-76650593	HL-60	blood:	n/a	n/a
50	POLR2A	chr4:76650007-76650186	A549	lung:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76596286..76601002-chr4:76645864..76652581,23	K562	blood:
2	chr4:76649785..76652192-chr4:76726091..76728026,2	K562	blood:
3	chr4:76437150..76439919-chr4:76648856..76651737,3	K562	blood:
4	chr3:185655349..185655943-chr4:76649732..76650243,2	Hela-S3	cervix:
5	chr12:123464855..123465488-chr4:76649632..76650346,2	Hela-S3	cervix:
6	chr4:76585902..76588334-chr4:76648159..76650846,2	MCF-7	breast:
7	chr4:76596470..76600480-chr4:76647707..76650691,10	MCF-7	breast:
8	chr4:75228897..75231606-chr4:76648590..76650355,2	K562	blood:
9	chr4:76580627..76584350-chr4:76648394..76652351,4	K562	blood:
10	chr4:76435978..76441393-chr4:76648372..76651737,6	K562	blood:
11	chr11:62608643..62609637-chr4:76649400..76650375,2	NB4	blood:
12	chr4:76595601..76600505-chr4:76645864..76652704,29	K562	blood:
13	chr4:76584918..76589893-chr4:76647342..76651400,4	K562	blood:
14	chr19:49121917..49122616-chr4:76649628..76650333,2	Hela-S3	cervix:
15	chr4:76595422..76600363-chr4:76647674..76651574,9	MCF-7	breast:

No data

Variant related genes	Relation type
G3BP2	TF binding region
ENSG00000124882	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000063176	Chromatin interaction
ENSG00000174796	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000138768	Chromatin interaction
ENSG00000201644	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000063177	Chromatin interaction
ENSG00000163743	Chromatin interaction
ENSG00000136527	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10009902	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10010519	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10014281	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025315	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10028884	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10029110	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097069	0.81[EUR][1000 genomes]
rs11097070	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11729258	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736474	0.85[EUR][1000 genomes]
rs13116639	0.87[EUR][1000 genomes]
rs13118426	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13133699	0.84[EUR][1000 genomes]
rs13137468	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13138717	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1546539	0.87[EUR][1000 genomes]
rs1548175	0.87[EUR][1000 genomes]
rs1553984	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1553986	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1967495	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1967496	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs226416	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280095	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869174	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs324682	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs324683	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs324685	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324689	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324692	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324695	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324707	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs324708	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs324711	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs324715	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs324716	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs324717	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs324718	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs324721	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs324724	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324725	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs324737	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3796473	0.85[EUR][1000 genomes]
rs3796485	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3853183	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3853184	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3942252	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349625	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs436611	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs443952	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4859403	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4859542	0.84[EUR][1000 genomes]
rs4859543	0.87[EUR][1000 genomes]
rs4859544	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859545	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4859546	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4859547	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4859548	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4859550	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5020591	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6419115	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6531841	0.87[EUR][1000 genomes]
rs6531866	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6531867	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6531868	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6531889	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531902	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6531903	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6826858	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6827809	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6835702	0.87[EUR][1000 genomes]
rs6835819	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6842216	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6855321	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6855960	0.80[EUR][1000 genomes]
rs72651313	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7356270	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7356310	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659408	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7662940	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672378	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7674063	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7674328	0.84[EUR][1000 genomes]
rs7677150	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685459	0.84[EUR][1000 genomes]
rs7691385	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691765	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7696241	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698393	0.86[EUR][1000 genomes]
rs9942164	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76647400-76652200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr4:76647400-76652600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr4:76647600-76651200	Active TSS	Fetal Muscle Trunk	muscle
4	chr4:76647600-76652000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:76647600-76652200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:76647800-76651600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:76648000-76651600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr4:76648000-76651800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:76648000-76651800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:76648200-76652000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:76648400-76651000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr4:76648400-76651000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:76648400-76651800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:76648400-76652200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:76648400-76652400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:76648600-76651200	Active TSS	Left Ventricle	heart
17	chr4:76648600-76651400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:76648600-76651600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr4:76648600-76651600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr4:76648600-76651600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr4:76648600-76651800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:76648600-76651800	Active TSS	A549	lung
23	chr4:76648600-76652200	Active TSS	Psoas Muscle	Psoas
24	chr4:76648600-76652600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:76648600-76652600	Active TSS	Aorta	Aorta
26	chr4:76648600-76653200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:76648800-76650600	Active TSS	Fetal Brain Male	brain
28	chr4:76648800-76650800	Active TSS	Esophagus	oesophagus
29	chr4:76648800-76650800	Active TSS	NHEK	skin
30	chr4:76648800-76651000	Active TSS	Fetal Stomach	stomach
31	chr4:76648800-76651200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:76648800-76651200	Bivalent/Poised TSS	HepG2	liver
33	chr4:76648800-76651400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:76648800-76651400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:76648800-76651400	Active TSS	HMEC	breast
36	chr4:76648800-76651600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:76648800-76651600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:76648800-76651600	Active TSS	Fetal Kidney	kidney
39	chr4:76648800-76651600	Active TSS	Stomach Mucosa	stomach
40	chr4:76648800-76651600	Active TSS	GM12878-XiMat	blood
41	chr4:76648800-76651800	Active TSS	Pancreas	Pancrea
42	chr4:76648800-76651800	Active TSS	NHLF	lung
43	chr4:76648800-76652200	Active TSS	Right Ventricle	heart
44	chr4:76648800-76652400	Active TSS	Ovary	ovary
45	chr4:76649000-76650400	Active TSS	Primary T cells fromperipheralblood	blood
46	chr4:76649000-76650600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr4:76649000-76650600	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr4:76649000-76650800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:76649000-76650800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:76649000-76650800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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