Variant report

Variant	rs4710127
Chromosome Location	chr6:167276041-167276042
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	POLR2A	chr6:167275832-167276052	MCF-7	breast:	n/a	n/a
2	ZNF263	chr6:167275644-167276523	HEK293-T-REx	kidney:	n/a	chr6:167276084-167276093
3	TAF1	chr6:167275699-167276143	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr6:167275767-167276851	H1-hESC	embryonic stem cell:	n/a	chr6:167276190-167276200 chr6:167276615-167276622 chr6:167276616-167276625 chr6:167276187-167276197 chr6:167276515-167276525 chr6:167276613-167276624 chr6:167276614-167276624 chr6:167276614-167276623 chr6:167276518-167276528
5	MXI1	chr6:167275867-167276428	H1-hESC	embryonic stem cell:	n/a	chr6:167276149-167276164
6	POLR2A	chr6:167275838-167276124	H1-hESC	embryonic stem cell:	n/a	n/a
7	SRF	chr6:167275849-167276383	H1-hESC	embryonic stem cell:	n/a	chr6:167276103-167276116 chr6:167276197-167276207
8	SIN3AK20	chr6:167275831-167276157	H1-hESC	embryonic stem cell:	n/a	n/a
9	SRF	chr6:167275952-167276221	GM12878	blood:	n/a	chr6:167276103-167276116 chr6:167276197-167276207
10	CTCF	chr6:167276000-167276150	GM06990	blood:	n/a	n/a
11	ZNF143	chr6:167275865-167276785	H1-hESC	embryonic stem cell:	n/a	chr6:167276217-167276235
12	CTCF	chr6:167276000-167276150	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr6:167275708-167276132	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr6:167275659-167276069	SK-N-SH_RA	brain:	n/a	chr6:167275838-167275852 chr6:167275872-167275884 chr6:167275862-167275884 chr6:167275835-167275849
15	YY1	chr6:167275640-167276101	GM12878	blood:	n/a	chr6:167275838-167275852 chr6:167275872-167275884 chr6:167275862-167275884 chr6:167275835-167275849
16	POLR2A	chr6:167275826-167276167	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr6:167275224-167276770	H1-neurons	neurons:	n/a	chr6:167276455-167276468 chr6:167276459-167276468 chr6:167276437-167276450 chr6:167276694-167276702 chr6:167275800-167275809 chr6:167276218-167276231 chr6:167275862-167275872
18	RAD21	chr6:167275613-167276093	H1-hESC	embryonic stem cell:	n/a	chr6:167275838-167275852 chr6:167275780-167275792 chr6:167275775-167275794
19	SRF	chr6:167275854-167276373	ECC-1	luminal epithelium:	n/a	chr6:167276103-167276116 chr6:167276197-167276207
20	POLR2A	chr6:167275359-167276748	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr6:167275586-167276140	H1-hESC	embryonic stem cell:	n/a	chr6:167275838-167275852 chr6:167275872-167275884 chr6:167275862-167275884 chr6:167275835-167275849
22	YY1	chr6:167275637-167276095	H1-hESC	embryonic stem cell:	n/a	chr6:167275838-167275852 chr6:167275872-167275884 chr6:167275862-167275884 chr6:167275835-167275849
23	E2F6	chr6:167275698-167276938	H1-hESC	embryonic stem cell:	n/a	chr6:167276200-167276210 chr6:167276264-167276273 chr6:167276186-167276195 chr6:167275833-167275843 chr6:167276437-167276447
24	SRF	chr6:167275847-167276315	H1-hESC	embryonic stem cell:	n/a	chr6:167276103-167276116 chr6:167276197-167276207
25	SIN3A	chr6:167275707-167276801	H1-hESC	embryonic stem cell:	n/a	chr6:167276455-167276468 chr6:167276434-167276447 chr6:167276461-167276469 chr6:167276365-167276373
26	CTCF	chr6:167275920-167276070	SK-N-SH_RA	brain:	n/a	n/a
27	MAZ	chr6:167275830-167276450	GM12878	blood:	n/a	chr6:167276190-167276200 chr6:167276187-167276197
28	YY1	chr6:167275713-167276070	HepG2	liver:	n/a	chr6:167275838-167275852 chr6:167275872-167275884 chr6:167275862-167275884 chr6:167275835-167275849
29	YY1	chr6:167275621-167276042	GM12878	blood:	n/a	chr6:167275838-167275852 chr6:167275872-167275884 chr6:167275862-167275884 chr6:167275835-167275849
30	TBP	chr6:167275575-167276890	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:167275675-167276616	H1-neurons	neurons:	n/a	n/a
32	MAX	chr6:167275836-167276168	MCF-7	breast:	n/a	n/a
33	CTCF	chr6:167276001-167276073	GM19239	blood:	n/a	n/a
34	SRF	chr6:167275827-167276360	ECC-1	luminal epithelium:	n/a	chr6:167276103-167276116 chr6:167276197-167276207
35	CHD2	chr6:167275963-167276282	H1-hESC	embryonic stem cell:	n/a	n/a
36	RFX5	chr6:167275643-167276221	H1-hESC	embryonic stem cell:	n/a	chr6:167276150-167276165 chr6:167276164-167276178 chr6:167276150-167276165 chr6:167276150-167276165 chr6:167276166-167276175
37	MAX	chr6:167275831-167276219	ECC-1	luminal epithelium:	n/a	chr6:167276190-167276200 chr6:167276187-167276197
38	CHD1	chr6:167275559-167276071	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr6:167275767-167276430	H1-hESC	embryonic stem cell:	n/a	chr6:167275838-167275852 chr6:167276289-167276303 chr6:167275780-167275792 chr6:167275775-167275794
40	POLR2A	chr6:167275601-167276826	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr6:167275761-167276166	H1-hESC	embryonic stem cell:	n/a	n/a
42	RFX5	chr6:167275984-167276150	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:167275830-167276520	H1-neurons	neurons:	n/a	n/a
44	MAX	chr6:167275651-167276919	H1-hESC	embryonic stem cell:	n/a	chr6:167276190-167276200 chr6:167276615-167276622 chr6:167276616-167276625 chr6:167276187-167276197 chr6:167276515-167276525 chr6:167276613-167276624 chr6:167276614-167276624 chr6:167276614-167276623 chr6:167276518-167276528
45	YY1	chr6:167275635-167276080	SK-N-SH_RA	brain:	n/a	chr6:167275838-167275852 chr6:167275872-167275884 chr6:167275862-167275884 chr6:167275835-167275849

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167275999-167276049	MCF10A-Er-Src	breast:	n/a
2	chr6:167275999-167276049	HL-60	blood:	n/a
3	chr6:167275999-167276049	HEEpiC	esophagus:	n/a
4	chr6:167275999-167276049	GM06990	blood:	n/a
5	chr6:167275999-167276049	PrEC	prostate:	n/a
6	chr6:167275999-167276049	NB4	blood:	n/a
7	chr6:167275999-167276049	AG04450	lung:	fetal
8	chr6:167275999-167276049	AG10803	skin:	n/a
9	chr6:167275999-167276049	HMEC	breast:	n/a
10	chr6:167275999-167276049	HRE	kidney:	n/a
11	chr6:167275999-167276049	HEK293	kidney:	embryo
12	chr6:167275999-167276049	IMR90	lung:	fetal
13	chr6:167275999-167276049	GM12891	blood:	n/a
14	chr6:167275999-167276049	CMK	blood:	n/a
15	chr6:167275999-167276049	GM19239	blood:	n/a
16	chr6:167275999-167276049	LNCaP	prostate:	n/a
17	chr6:167275999-167276049	H1-hESC	embryonic stem cell:	embryo
18	chr6:167275999-167276049	U87	brain:	n/a
19	chr6:167275999-167276049	AG09319	gingival:	n/a
20	chr6:167275999-167276049	HRPEpiC	eye:	n/a
21	chr6:167275999-167276049	Hela-S3	cervix:	n/a
22	chr6:167275999-167276049	HRCEpiC	kidney:	n/a
23	chr6:167275999-167276049	HAEpiC	amniotic membrane:	n/a
24	chr6:167275999-167276049	GM12878	blood:	n/a
25	chr6:167275999-167276049	SK-N-MC	brain:	n/a
26	chr6:167275999-167276049	ProgFib	skin:	n/a
27	chr6:167275999-167276049	HCF	heart:	n/a
28	chr6:167275999-167276049	PFSK-1	brain:	n/a
29	chr6:167275999-167276049	K562	blood:	n/a
30	chr6:167275999-167276049	HUVEC	blood vessel:	n/a
31	chr6:167275999-167276049	AG04449	skin:	fetal
32	chr6:167275999-167276049	SK-N-SH	brain:	n/a
33	chr6:167275999-167276049	HCM	heart:	n/a
34	chr6:167275999-167276049	ECC-1	luminal epithelium:	n/a
35	chr6:167275999-167276049	Jurkat	blood:	n/a
36	chr6:167275999-167276049	NH-A	brain:	n/a
37	chr6:167275999-167276049	RPTEC	kidney:	n/a
38	chr6:167275999-167276049	NT2-D1	testis:	n/a
39	chr6:167275999-167276049	BE2_C	brain:	n/a
40	chr6:167275999-167276049	HCPEpiC	choroid plexus:	n/a
41	chr6:167275999-167276049	SK-N-SH_RA	brain:	n/a
42	chr6:167275999-167276049	A549	lung:	n/a
43	chr6:167275999-167276049	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:167275999-167276049	AoSMC	blood vessel:	n/a
45	chr6:167275999-167276049	SAEC	small airway:	n/a
46	chr6:167275999-167276049	ovcar-3	ovarian:	n/a
47	chr6:167275999-167276049	NHDF-neo	bronchial:	n/a
48	chr6:167275999-167276049	SKMC	muscle:	n/a
49	chr6:167275999-167276049	PANC-1	pancreas:	n/a
50	chr6:167275999-167276049	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167274608..167276505-chr6:167368344..167370567,2	MCF-7	breast:

Variant related genes	Relation type
RPS6KA2	TF binding region
RPS6KA2	CpG island
ENSG00000249141	Chromatin interaction
ENSG00000026297	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13362600	0.81[ASN][1000 genomes]
rs1536645	0.85[CHB][hapmap]
rs4710124	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6456129	0.85[ASN][1000 genomes]
rs6456130	0.85[ASN][1000 genomes]
rs6456132	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6918384	0.81[CEU][hapmap]
rs71571461	0.83[EUR][1000 genomes]
rs7746934	0.85[CHB][hapmap]
rs7767948	0.85[CHB][hapmap]
rs9347163	0.85[CHB][hapmap]
rs9348198	0.85[CHB][hapmap];0.82[MEX][hapmap]
rs9348199	0.85[ASN][1000 genomes]
rs9348200	1.00[CHB][hapmap]
rs9348201	0.93[CEU][hapmap]
rs9356527	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9356530	0.85[CHB][hapmap]
rs943687	0.89[ASN][1000 genomes]
rs9459779	0.81[EUR][1000 genomes]
rs9459780	0.81[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv482525	chr6:167151805-167324406	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1027314	chr6:167194653-167355961	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv538542	chr6:167194653-167355961	Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv605332	chr6:167198027-167353701	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
13	nsv605333	chr6:167201033-167321693	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1016940	chr6:167222633-167289747	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv886942	chr6:167245665-167282950	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167272600-167276600	Active TSS	Brain Anterior Caudate	brain
2	chr6:167273000-167276600	Active TSS	Brain Angular Gyrus	brain
3	chr6:167273800-167277000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:167274400-167276400	Active TSS	Brain Germinal Matrix	brain
5	chr6:167275000-167277000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:167275200-167276400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr6:167275200-167276400	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:167275200-167276600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:167275200-167276600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:167275200-167276600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:167275200-167276600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
12	chr6:167275200-167276800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:167275200-167277000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:167275400-167276200	Bivalent/Poised TSS	Fetal Kidney	kidney
15	chr6:167275400-167276200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr6:167275400-167276400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:167275400-167276400	Bivalent/Poised TSS	Fetal Stomach	stomach
18	chr6:167275400-167276600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:167275400-167276600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:167275400-167276600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:167275400-167276600	Active TSS	Aorta	Aorta
22	chr6:167275400-167276600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr6:167275400-167276600	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr6:167275400-167276800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:167275400-167276800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:167275400-167276800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:167275400-167276800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:167275400-167276800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:167275400-167276800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
30	chr6:167275400-167276800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr6:167275400-167276800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
32	chr6:167275400-167276800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:167275400-167276800	Bivalent/Poised TSS	Left Ventricle	heart
34	chr6:167275400-167277000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr6:167275600-167276200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
36	chr6:167275600-167276200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr6:167275600-167276200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:167275600-167276200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr6:167275600-167276200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
40	chr6:167275600-167276200	Bivalent/Poised TSS	NHLF	lung
41	chr6:167275600-167276400	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr6:167275600-167276400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:167275600-167276400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:167275600-167276400	Active TSS	Lung	lung
45	chr6:167275600-167276400	Active TSS	Placenta Amnion	Placenta Amnion
46	chr6:167275600-167276400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:167275600-167276400	Flanking Bivalent TSS/Enh	Thymus	Thymus
48	chr6:167275600-167276400	Bivalent/Poised TSS	Osteobl	bone
49	chr6:167275600-167276600	Active TSS	H1 Cell Line	embryonic stem cell
50	chr6:167275600-167276600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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