Variant report

Variant	rs4734654
Chromosome Location	chr8:103669991-103669992
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	chr8:103665892-103671067	GM12878	blood:	n/a	n/a
2	REST	chr8:103669414-103670059	PFSK-1	brain:	n/a	chr8:103669901-103669914 chr8:103669622-103669632
3	MAX	chr8:103669441-103669995	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr8:103658281-103671095	U87	brain:	n/a	n/a
5	POLR2A	chr8:103665935-103670221	GM12892	blood:	n/a	n/a
6	MAX	chr8:103667167-103670359	A549	lung:	n/a	chr8:103668327-103668342 chr8:103668327-103668336 chr8:103668331-103668340
7	MAZ	chr8:103665768-103669993	Hela-S3	cervix:	n/a	chr8:103666317-103666326 chr8:103668327-103668342 chr8:103666996-103667006 chr8:103666326-103666336 chr8:103666639-103666649 chr8:103666814-103666823 chr8:103666700-103666710 chr8:103668327-103668336 chr8:103668331-103668340
8	POLR2A	chr8:103666482-103669994	SK-N-MC	brain:	n/a	n/a
9	SIN3AK20	chr8:103665549-103670042	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:103667337-103671078	GM12891	blood:	n/a	n/a
11	NFIC	chr8:103669359-103670053	SK-N-SH	brain:	n/a	n/a
12	TBP	chr8:103669082-103670200	Hela-S3	cervix:	n/a	n/a
13	MAFK	chr8:103669411-103670139	Hela-S3	cervix:	n/a	n/a
14	ZBTB7A	chr8:103666642-103670099	ECC-1	luminal epithelium:	n/a	chr8:103667727-103667736 chr8:103666866-103666875 chr8:103667201-103667208
15	POLR2A	chr8:103667313-103670033	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr8:103665746-103670407	Hela-S3	cervix:	n/a	n/a
17	SMARCB1	chr8:103665893-103670245	Hela-S3	cervix:	n/a	chr8:103666203-103666212
18	EP300	chr8:103669629-103670896	GM12878	blood:	n/a	n/a
19	TFAP2A	chr8:103667672-103670096	Hela-S3	cervix:	n/a	chr8:103669735-103669747 chr8:103669793-103669805 chr8:103668164-103668172 chr8:103668014-103668026 chr8:103668014-103668024 chr8:103669123-103669134 chr8:103669545-103669560 chr8:103669123-103669135 chr8:103668014-103668024 chr8:103669731-103669746 chr8:103668164-103668172 chr8:103669123-103669134 chr8:103668164-103668172 chr8:103669730-103669745 chr8:103669123-103669134 chr8:103668014-103668024 chr8:103667922-103667933
20	POLR2A	chr8:103669395-103670150	Hela-S3	cervix:	n/a	n/a
21	TEAD4	chr8:103669372-103670166	ECC-1	luminal epithelium:	n/a	chr8:103669885-103669894
22	MXI1	chr8:103665181-103670954	IMR90	lung:	n/a	chr8:103668330-103668339 chr8:103668328-103668337 chr8:103667095-103667104
23	EP300	chr8:103669321-103670023	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr8:103669365-103670216	HepG2	liver:	n/a	n/a
25	BATF	chr8:103669730-103670227	GM12878	blood:	n/a	n/a
26	JUN	chr8:103665530-103670942	K562	blood:	n/a	chr8:103667751-103667765 chr8:103667305-103667314 chr8:103667355-103667366 chr8:103668703-103668712 chr8:103666200-103666211 chr8:103666203-103666212
27	EGR1	chr8:103665613-103670045	HCT-116	colon:	n/a	chr8:103667475-103667488 chr8:103666318-103666327 chr8:103667949-103667962 chr8:103666312-103666321 chr8:103666813-103666823 chr8:103666701-103666711 chr8:103666938-103666948 chr8:103668212-103668225 chr8:103668406-103668416 chr8:103666866-103666879 chr8:103666812-103666825 chr8:103666309-103666322 chr8:103666867-103666877 chr8:103666309-103666323 chr8:103669058-103669072 chr8:103667181-103667191 chr8:103666315-103666328 chr8:103666812-103666825 chr8:103668908-103668921 chr8:103666309-103666322 chr8:103666812-103666825 chr8:103666308-103666323 chr8:103666315-103666329 chr8:103666813-103666824 chr8:103666997-103667007 chr8:103666326-103666339 chr8:103666309-103666322 chr8:103666807-103666829 chr8:103666809-103666823 chr8:103666309-103666322 chr8:103666812-103666825 chr8:103666813-103666822 chr8:103668400-103668415 chr8:103669056-103669071 chr8:103666998-103667011 chr8:103666317-103666327 chr8:103666813-103666823 chr8:103666638-103666648 chr8:103666811-103666825 chr8:103668422-103668432
28	GABPA	chr8:103669430-103670062	A549	lung:	n/a	n/a
29	POLR2A	chr8:103664516-103670221	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr8:103665834-103671111	GM19099	blood:	n/a	n/a
31	TCF12	chr8:103669192-103670150	ECC-1	luminal epithelium:	n/a	chr8:103669895-103669905 chr8:103669898-103669908
32	POLR2A	chr8:103665660-103670378	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr8:103669374-103670035	ECC-1	luminal epithelium:	n/a	chr8:103669829-103669839
34	POLR2A	chr8:103665982-103671233	GM18505	blood:	n/a	n/a
35	CTBP2	chr8:103669590-103670051	H1-hESC	embryonic stem cell:	n/a	n/a
36	HEY1	chr8:103669196-103670096	HepG2	liver:	n/a	n/a
37	POLR2A	chr8:103665972-103670172	GM18951	blood:	n/a	n/a
38	TCF12	chr8:103666838-103670072	A549	lung:	n/a	chr8:103667041-103667051 chr8:103667095-103667105 chr8:103666989-103666999 chr8:103669895-103669905 chr8:103669898-103669908
39	TEAD4	chr8:103669621-103670114	H1-hESC	embryonic stem cell:	n/a	chr8:103669885-103669894
40	TEAD4	chr8:103669658-103670093	H1-hESC	embryonic stem cell:	n/a	chr8:103669885-103669894
41	BATF	chr8:103669804-103670113	GM12878	blood:	n/a	n/a
42	ATF2	chr8:103669428-103670163	GM12878	blood:	n/a	n/a
43	MAZ	chr8:103669525-103670146	GM12878	blood:	n/a	n/a
44	STAT1	chr8:103669975-103670152	GM12878	blood:	n/a	n/a
45	BCLAF1	chr8:103669462-103670098	GM12878	blood:	n/a	chr8:103669548-103669561 chr8:103669795-103669808 chr8:103669619-103669632
46	POLR2A	chr8:103658275-103671134	U87	brain:	n/a	n/a
47	EP300	chr8:103669209-103670547	ECC-1	luminal epithelium:	n/a	n/a
48	MTA3	chr8:103669738-103670930	GM12878	blood:	n/a	n/a
49	CEBPB	chr8:103669437-103670388	Hela-S3	cervix:	n/a	n/a
50	ZBTB7A	chr8:103669442-103670026	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103422007..103426020-chr8:103666229..103670037,6	K562	blood:
2	chr8:103669150..103670136-chr8:103818254..103819065,2	HCT-116	colon:
3	chr11:20385268..20386180-chr8:103669551..103670160,2	Hela-S3	cervix:
4	chr8:103668401..103671307-chr8:103686739..103688259,2	K562	blood:
5	chr8:103669620..103671397-chr8:103696948..103698571,2	K562	blood:
6	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
7	chr8:103668322..103669992-chr8:103842318..103844733,2	K562	blood:
8	chr8:103668891..103670654-chr8:103875335..103877488,2	K562	blood:
9	chr8:103667482..103670285-chr8:103698237..103701283,5	MCF-7	breast:
10	chr15:31616920..31619586-chr8:103667733..103670691,2	MCF-7	breast:
11	chr8:103628443..103630638-chr8:103668451..103670102,2	MCF-7	breast:
12	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
13	chr8:103612597..103614487-chr8:103669576..103671484,2	MCF-7	breast:
14	chr8:103668385..103670802-chr8:103734647..103737242,2	K562	blood:
15	chr8:102217029..102218923-chr8:103667742..103670301,2	MCF-7	breast:
16	chr1:227503315..227505828-chr8:103669549..103671492,2	MCF-7	breast:
17	chr8:103669018..103671506-chr8:103743159..103745157,2	MCF-7	breast:
18	chr8:103668517..103670035-chr8:103760551..103763075,2	MCF-7	breast:
19	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
20	chr8:103422573..103426010-chr8:103669254..103672542,3	MCF-7	breast:
21	chr8:103669664..103670176-chr8:103818037..103818965,2	MCF-7	breast:
22	chr8:103669620..103672058-chr8:103696948..103699668,2	K562	blood:
23	chr8:103669378..103671910-chr8:103714543..103716720,2	MCF-7	breast:
24	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

Variant related genes	Relation type
KLF10	TF binding region
ENSG00000143776	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000120963	Chromatin interaction
ENSG00000250684	Chromatin interaction
ENSG00000169926	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000109854	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10106298	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1076030	0.89[CEU][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13275089	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1434281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1550005	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16869658	0.81[CHD][hapmap]
rs17773903	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2099408	0.89[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2436936	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2436940	0.89[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3191333	0.94[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4281092	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs4734648	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs6998277	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7002992	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7835270	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103664200-103670000	Active TSS	Right Atrium	heart
2	chr8:103665000-103670200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr8:103665200-103670000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:103665200-103670000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:103665200-103670000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:103665600-103670000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:103665800-103670000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:103666600-103670000	Active TSS	Lung	lung
9	chr8:103666800-103670000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:103667800-103671000	Enhancers	Fetal Heart	heart
11	chr8:103668400-103670000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr8:103668400-103670000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr8:103668400-103670000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr8:103668400-103670400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr8:103668400-103670400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:103668400-103670600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:103668600-103670000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:103668600-103670000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr8:103668600-103670000	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr8:103668600-103670200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr8:103668600-103670200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:103668600-103670200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:103668600-103670200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr8:103668600-103670400	Flanking Active TSS	Osteobl	bone
25	chr8:103668600-103670600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:103668600-103670600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr8:103668600-103671200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:103668800-103670000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr8:103668800-103670000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr8:103668800-103670000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:103668800-103670000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr8:103668800-103670000	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr8:103668800-103670000	Flanking Active TSS	Fetal Stomach	stomach
34	chr8:103668800-103670000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr8:103668800-103670000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr8:103668800-103670000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr8:103668800-103670000	Flanking Active TSS	NHEK	skin
38	chr8:103668800-103670200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:103668800-103670200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:103668800-103670200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr8:103668800-103670200	Flanking Active TSS	HMEC	breast
42	chr8:103668800-103670400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:103668800-103670400	Flanking Active TSS	HUVEC	blood vessel
44	chr8:103668800-103670400	Flanking Active TSS	NH-A	brain
45	chr8:103668800-103670600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:103668800-103670600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr8:103669000-103670000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr8:103669000-103670000	Flanking Active TSS	Fetal Brain Female	brain
49	chr8:103669000-103670200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:103669000-103670200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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