Variant report

Variant	rs72685128
Chromosome Location	chr8:103669486-103669487
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	REST	chr8:103669369-103669956	HepG2	liver:	n/a	chr8:103669901-103669914 chr8:103669622-103669632
2	POLR2A	chr8:103665892-103671067	GM12878	blood:	n/a	n/a
3	REST	chr8:103669414-103670059	PFSK-1	brain:	n/a	chr8:103669901-103669914 chr8:103669622-103669632
4	MAX	chr8:103669441-103669995	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr8:103669440-103669926	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr8:103658281-103671095	U87	brain:	n/a	n/a
7	POLR2A	chr8:103669088-103669916	GM12892	blood:	n/a	n/a
8	POLR2A	chr8:103665935-103670221	GM12892	blood:	n/a	n/a
9	MAX	chr8:103667167-103670359	A549	lung:	n/a	chr8:103668327-103668342 chr8:103668327-103668336 chr8:103668331-103668340
10	GABPA	chr8:103669459-103669988	Hela-S3	cervix:	n/a	n/a
11	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
12	POLR2A	chr8:103666482-103669994	SK-N-MC	brain:	n/a	n/a
13	SIN3AK20	chr8:103665549-103670042	MCF-7	breast:	n/a	n/a
14	YY1	chr8:103669441-103669788	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:103667337-103671078	GM12891	blood:	n/a	n/a
16	NFIC	chr8:103669359-103670053	SK-N-SH	brain:	n/a	n/a
17	TBP	chr8:103669082-103670200	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr8:103667087-103669768	Hela-S3	cervix:	n/a	chr8:103668330-103668339 chr8:103668328-103668337 chr8:103667095-103667104
19	MAFK	chr8:103669411-103670139	Hela-S3	cervix:	n/a	n/a
20	ZBTB7A	chr8:103666642-103670099	ECC-1	luminal epithelium:	n/a	chr8:103667727-103667736 chr8:103666866-103666875 chr8:103667201-103667208
21	TBP	chr8:103669439-103669978	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr8:103669436-103669917	A549	lung:	n/a	n/a
23	POLR2A	chr8:103667313-103670033	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr8:103665746-103670407	Hela-S3	cervix:	n/a	n/a
25	SMARCB1	chr8:103665893-103670245	Hela-S3	cervix:	n/a	chr8:103666203-103666212
26	POLR2A	chr8:103669375-103669987	HUVEC	blood vessel:	n/a	n/a
27	GATA3	chr8:103667436-103669989	A549	lung:	n/a	chr8:103669966-103669976 chr8:103669406-103669416
28	BHLHE40	chr8:103669019-103669782	K562	blood:	n/a	n/a
29	NFIC	chr8:103669382-103669964	HepG2	liver:	n/a	n/a
30	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
31	CHD1	chr8:103669326-103669518	GM12878	blood:	n/a	n/a
32	TAF1	chr8:103669445-103669893	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:103669395-103670150	Hela-S3	cervix:	n/a	n/a
34	TEAD4	chr8:103669372-103670166	ECC-1	luminal epithelium:	n/a	chr8:103669885-103669894
35	MXI1	chr8:103665181-103670954	IMR90	lung:	n/a	chr8:103668330-103668339 chr8:103668328-103668337 chr8:103667095-103667104
36	POLR2A	chr8:103669481-103669945	K562	blood:	n/a	n/a
37	EP300	chr8:103669321-103670023	ECC-1	luminal epithelium:	n/a	n/a
38	TAF1	chr8:103669424-103669881	A549	lung:	n/a	n/a
39	POLR2A	chr8:103669365-103670216	HepG2	liver:	n/a	n/a
40	EP300	chr8:103669352-103669908	A549	lung:	n/a	n/a
41	UBTF	chr8:103669154-103669837	K562	blood:	n/a	n/a
42	FOS	chr8:103669413-103669951	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr8:103669477-103669989	ECC-1	luminal epithelium:	n/a	n/a
44	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
45	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
46	POLR2A	chr8:103665966-103669877	Raji	blood:	n/a	n/a
47	GABPA	chr8:103669430-103670062	A549	lung:	n/a	n/a
48	POLR2A	chr8:103669481-103669984	GM12892	blood:	n/a	n/a
49	SIN3AK20	chr8:103669469-103669800	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr8:103669411-103669880	SK-N-SH_RA	brain:	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	chr8:103668401..103671307-chr8:103686739..103688259,2	K562	blood:
4	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
5	chr8:103668322..103669992-chr8:103842318..103844733,2	K562	blood:
6	chr8:103668891..103670654-chr8:103875335..103877488,2	K562	blood:
7	chr17:41444683..41445580-chr8:103669065..103669667,2	Hela-S3	cervix:
8	chr8:103667482..103670285-chr8:103698237..103701283,5	MCF-7	breast:
9	chr15:31616920..31619586-chr8:103667733..103670691,2	MCF-7	breast:
10	chr8:103628443..103630638-chr8:103668451..103670102,2	MCF-7	breast:
11	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
12	chr8:103668385..103670802-chr8:103734647..103737242,2	K562	blood:
13	chr8:102217029..102218923-chr8:103667742..103670301,2	MCF-7	breast:
14	chr5:172194030..172194622-chr8:103669211..103669920,2	Hela-S3	cervix:
15	chr8:103669018..103671506-chr8:103743159..103745157,2	MCF-7	breast:
16	chr8:103668517..103670035-chr8:103760551..103763075,2	MCF-7	breast:
17	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
18	chr8:103422573..103426010-chr8:103669254..103672542,3	MCF-7	breast:
19	chr16:4666402..4667006-chr8:103668733..103669602,2	Hela-S3	cervix:
20	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:
21	chr8:103669378..103671910-chr8:103714543..103716720,2	MCF-7	breast:
22	chr8:103668324..103669911-chr8:103703170..103705007,2	MCF-7	breast:
23	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

Variant related genes	Relation type
KLF10	TF binding region
ENSG00000102858	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000250684	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000169926	Chromatin interaction
ENSG00000120963	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10955288	0.83[AFR][1000 genomes]
rs12546601	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547574	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548858	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12549399	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12674646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674767	0.83[AFR][1000 genomes]
rs12675196	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675239	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680362	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680908	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12682093	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869676	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16869695	0.96[ASN][1000 genomes]
rs16869724	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436946	0.93[ASN][1000 genomes]
rs2471847	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2511701	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511718	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2511719	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2511730	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2734824	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2916570	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3018443	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35509459	0.83[AFR][1000 genomes]
rs55750587	0.83[AFR][1000 genomes]
rs55814340	0.83[AFR][1000 genomes]
rs56929055	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72683098	0.83[AFR][1000 genomes]
rs72683100	0.83[AFR][1000 genomes]
rs72683101	0.83[AFR][1000 genomes]
rs72683102	0.83[AFR][1000 genomes]
rs72685109	0.81[ASN][1000 genomes]
rs72685110	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72685117	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72685118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72685123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73276720	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9642792	0.83[ASN][1000 genomes]
rs980112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103664000-103669600	Active TSS	Psoas Muscle	Psoas
2	chr8:103664200-103670000	Active TSS	Right Atrium	heart
3	chr8:103664800-103669800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:103665000-103670200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr8:103665200-103670000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:103665200-103670000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:103665200-103670000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:103665400-103669600	Active TSS	GM12878-XiMat	blood
9	chr8:103665600-103670000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:103665800-103669600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:103665800-103669600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr8:103665800-103669600	Active TSS	Gastric	stomach
13	chr8:103665800-103669600	Active TSS	Left Ventricle	heart
14	chr8:103665800-103670000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:103666000-103669600	Active TSS	A549	lung
16	chr8:103666600-103670000	Active TSS	Lung	lung
17	chr8:103666800-103670000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:103667000-103669800	Active TSS	Fetal Lung	lung
19	chr8:103667200-103669600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr8:103667800-103669600	Active TSS	Brain Substantia Nigra	brain
21	chr8:103667800-103671000	Enhancers	Fetal Heart	heart
22	chr8:103668400-103669600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr8:103668400-103669800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr8:103668400-103669800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr8:103668400-103670000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr8:103668400-103670000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr8:103668400-103670000	Flanking Active TSS	Colonic Mucosa	Colon
28	chr8:103668400-103670400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr8:103668400-103670400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:103668400-103670600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:103668600-103669600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr8:103668600-103669600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:103668600-103669800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr8:103668600-103669800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:103668600-103670000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:103668600-103670000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr8:103668600-103670000	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr8:103668600-103670200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr8:103668600-103670200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:103668600-103670200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:103668600-103670200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr8:103668600-103670400	Flanking Active TSS	Osteobl	bone
43	chr8:103668600-103670600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:103668600-103670600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr8:103668600-103671200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr8:103668800-103669600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:103668800-103669600	Flanking Active TSS	Liver	Liver
48	chr8:103668800-103669600	Flanking Active TSS	Esophagus	oesophagus
49	chr8:103668800-103669600	Flanking Active TSS	Fetal Brain Male	brain
50	chr8:103668800-103669800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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