Variant report

Variant	rs2916570
Chromosome Location	chr8:103667612-103667613
allele	C/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	POLR2A	chr8:103667602-103668191	HepG2	liver:	n/a	n/a
3	EGR1	chr8:103667478-103668688	ECC-1	luminal epithelium:	n/a	chr8:103667949-103667962 chr8:103668212-103668225 chr8:103668406-103668416 chr8:103668400-103668415 chr8:103668422-103668432
4	POLR2A	chr8:103658807-103668119	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:103658281-103671095	U87	brain:	n/a	n/a
6	POLR2A	chr8:103665935-103670221	GM12892	blood:	n/a	n/a
7	MAX	chr8:103667167-103670359	A549	lung:	n/a	chr8:103668327-103668342 chr8:103668327-103668336 chr8:103668331-103668340
8	ZNF263	chr8:103667236-103668067	HEK293-T-REx	kidney:	n/a	chr8:103667473-103667482 chr8:103667493-103667502 chr8:103667334-103667343
9	TCF12	chr8:103665520-103669189	MCF-7	breast:	n/a	chr8:103667041-103667051 chr8:103667095-103667105 chr8:103666989-103666999
10	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
11	POLR2A	chr8:103666482-103669994	SK-N-MC	brain:	n/a	n/a
12	SIN3AK20	chr8:103665549-103670042	MCF-7	breast:	n/a	n/a
13	POLR2A	chr8:103665567-103668172	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr8:103667337-103671078	GM12891	blood:	n/a	n/a
15	NFYB	chr8:103667540-103668676	K562	blood:	n/a	chr8:103668022-103668035 chr8:103668019-103668034 chr8:103668054-103668069 chr8:103668022-103668036 chr8:103668022-103668037 chr8:103668054-103668069 chr8:103668051-103668066 chr8:103668022-103668037 chr8:103668054-103668068
16	MXI1	chr8:103667087-103669768	Hela-S3	cervix:	n/a	chr8:103668330-103668339 chr8:103668328-103668337 chr8:103667095-103667104
17	POLR2A	chr8:103665732-103669242	Hela-S3	cervix:	n/a	n/a
18	MYBL2	chr8:103667566-103668575	HepG2	liver:	n/a	n/a
19	TAF1	chr8:103667471-103668353	ECC-1	luminal epithelium:	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	CTCF	chr8:103667480-103667630	HBMEC	blood vessel:	n/a	chr8:103667588-103667598
22	SIN3A	chr8:103667423-103669122	GM12878	blood:	n/a	chr8:103668694-103668703 chr8:103667934-103667947 chr8:103668685-103668694 chr8:103668355-103668366
23	POLR2A	chr8:103667313-103670033	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr8:103665774-103668767	K562	blood:	n/a	n/a
25	POLR2A	chr8:103665746-103670407	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr8:103665722-103669269	HCT-116	colon:	n/a	n/a
27	SMARCB1	chr8:103665893-103670245	Hela-S3	cervix:	n/a	chr8:103666203-103666212
28	GATA3	chr8:103667436-103669989	A549	lung:	n/a	chr8:103669966-103669976 chr8:103669406-103669416
29	RAD21	chr8:103667601-103668184	A549	lung:	n/a	n/a
30	CHD2	chr8:103667596-103668648	GM12878	blood:	n/a	chr8:103668628-103668638
31	PML	chr8:103667608-103669008	MCF-7	breast:	n/a	n/a
32	CTCF	chr8:103667480-103667630	SAEC	small airway:	n/a	chr8:103667588-103667598
33	MAZ	chr8:103665775-103669282	GM12878	blood:	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
34	POLR2A	chr8:103665957-103669301	GM12878	blood:	n/a	n/a
35	MXI1	chr8:103665181-103670954	IMR90	lung:	n/a	chr8:103668330-103668339 chr8:103668328-103668337 chr8:103667095-103667104
36	YY1	chr8:103667555-103668024	A549	lung:	n/a	chr8:103667929-103667938 chr8:103667921-103667935 chr8:103667930-103667944 chr8:103667926-103667937 chr8:103667918-103667932 chr8:103667926-103667935
37	POLR2A	chr8:103665806-103668606	K562	blood:	n/a	n/a
38	ZNF143	chr8:103665850-103669208	GM12878	blood:	n/a	chr8:103668275-103668293 chr8:103668684-103668694 chr8:103666642-103666652 chr8:103666249-103666259
39	ZBTB7A	chr8:103666574-103668547	K562	blood:	n/a	chr8:103667727-103667736 chr8:103666866-103666875 chr8:103667201-103667208
40	POLR2A	chr8:103665784-103668679	K562	blood:	n/a	n/a
41	PAX5	chr8:103667519-103668840	GM12878	blood:	n/a	n/a
42	IRF1	chr8:103667512-103668141	K562	blood:	n/a	chr8:103668024-103668033
43	TCF3	chr8:103667604-103668766	GM12878	blood:	n/a	chr8:103668620-103668634 chr8:103668622-103668632
44	FOXM1	chr8:103665751-103669298	MCF-7	breast:	n/a	n/a
45	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
46	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
47	POLR2A	chr8:103665966-103669877	Raji	blood:	n/a	n/a
48	POLR2A	chr8:103665780-103668700	K562	blood:	n/a	n/a
49	MAX	chr8:103667307-103668909	ECC-1	luminal epithelium:	n/a	chr8:103668327-103668342 chr8:103668327-103668336 chr8:103668331-103668340
50	EP300	chr8:103665662-103669044	ECC-1	luminal epithelium:	n/a	chr8:103667927-103667936 chr8:103667016-103667032 chr8:103668687-103668703 chr8:103668225-103668238 chr8:103666969-103666978 chr8:103666764-103666780 chr8:103666865-103666874 chr8:103667010-103667026

No.	Distal block	Cell Line	Cell type
1	chr21:44816498..44817222-chr8:103667168..103667816,2	Hela-S3	cervix:
2	chr8:103667089..103668046-chr8:103819732..103820386,3	MCF-7	breast:
3	chr17:57922210..57925041-chr8:103666708..103669073,2	MCF-7	breast:
4	chr5:72793784..72794452-chr8:103667515..103668043,2	Hela-S3	cervix:
5	chr3:49058820..49059490-chr8:103667349..103667977,2	NB4	blood:
6	chr8:103251288..103253851-chr8:103665938..103668117,3	MCF-7	breast:
7	chr11:60672587..60674671-chr8:103667348..103669319,2	MCF-7	breast:
8	chr8:103422007..103426020-chr8:103666229..103670037,6	K562	blood:
9	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
10	chr8:103667418..103667971-chr8:103798353..103799273,2	MCF-7	breast:
11	chr8:103665043..103667902-chr8:104032502..104034925,2	K562	blood:
12	chr14:23067046..23067628-chr8:103667324..103667984,2	Hela-S3	cervix:
13	chr8:103667482..103670285-chr8:103698237..103701283,5	MCF-7	breast:
14	chr6:26215473..26218378-chr8:103666198..103668102,2	MCF-7	breast:
15	chr8:102504729..102507317-chr8:103666096..103668970,4	MCF-7	breast:
16	chr22:43011161..43011707-chr8:103667264..103668246,2	Hela-S3	cervix:
17	chr8:103420666..103426323-chr8:103664417..103668286,11	K562	blood:
18	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
19	chr8:103666334..103668063-chr9:139620100..139622270,2	MCF-7	breast:
20	chr8:103667409..103668879-chr8:103818175..103819938,6	MCF-7	breast:
21	chr8:103570250..103572915-chr8:103665541..103668437,2	MCF-7	breast:
22	chr17:58154613..58157285-chr8:103665934..103668850,2	MCF-7	breast:
23	chr8:103665615..103668454-chr9:19407713..19410281,2	MCF-7	breast:
24	chr11:64140352..64141276-chr8:103667092..103668087,2	Hela-S3	cervix:
25	chr8:103424815..103426910-chr8:103666602..103668807,2	MCF-7	breast:
26	chr1:76251320..76252039-chr8:103667296..103668087,2	Hela-S3	cervix:
27	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
28	chr8:103540947..103542816-chr8:103666262..103668771,2	K562	blood:
29	chr8:103666355..103668286-chr8:103744275..103747247,3	K562	blood:
30	chr20:60639221..60642112-chr8:103666965..103668940,2	MCF-7	breast:
31	chr19:18391992..18392528-chr8:103667604..103668129,2	Hela-S3	cervix:
32	chr8:103666250..103669123-chr8:103743664..103749128,10	MCF-7	breast:
33	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
34	chr8:103667505..103668484-chr8:103818650..103819608,4	MCF-7	breast:
35	chr8:103666355..103667903-chr8:103744544..103747087,2	K562	blood:
36	chr19:39897216..39897940-chr8:103666800..103667651,2	Hela-S3	cervix:
37	chr22:51066083..51066839-chr8:103667533..103668409,2	HCT-116	colon:
38	chr6:74229302..74231632-chr8:103666566..103668459,2	MCF-7	breast:
39	chr11:62620136..62622532-chr8:103666422..103668667,2	K562	blood:
40	chr12:51157750..51158421-chr8:103667480..103668288,2	Hela-S3	cervix:
41	chr17:56160728..56161286-chr8:103667611..103668378,2	Hela-S3	cervix:
42	chr1:149222331..149224721-chr8:103666579..103669168,2	MCF-7	breast:
43	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:
44	chr17:34136056..34136938-chr8:103667597..103668388,2	Hela-S3	cervix:
45	chr17:73775313..73776010-chr8:103667593..103668308,2	MCF-7	breast:
46	chr8:103667252..103668985-chr8:145157486..145159881,2	MCF-7	breast:
47	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

Variant related genes	Relation type
KLF10	TF binding region
ENSG00000178057	Chromatin interaction
ENSG00000264364	Chromatin interaction
ENSG00000172660	Chromatin interaction
ENSG00000272525	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000100299	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000250684	Chromatin interaction
ENSG00000110107	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000145741	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000177076	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000233016	Chromatin interaction
ENSG00000265306	Chromatin interaction
ENSG00000253633	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000100439	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000179632	Chromatin interaction
ENSG00000257052	Chromatin interaction
ENSG00000130699	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000267416	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000179526	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000155087	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12546601	0.92[ASN][1000 genomes]
rs12547574	0.96[ASN][1000 genomes]
rs12548858	0.84[ASN][1000 genomes]
rs12549399	0.84[ASN][1000 genomes]
rs12674646	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12675196	0.87[ASN][1000 genomes]
rs12675239	0.87[ASN][1000 genomes]
rs12680362	0.95[ASN][1000 genomes]
rs12680598	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12680908	0.85[ASN][1000 genomes]
rs12682093	0.92[ASN][1000 genomes]
rs16869676	0.92[ASN][1000 genomes]
rs16869695	0.93[ASN][1000 genomes]
rs16869724	0.83[ASN][1000 genomes]
rs2436946	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2471847	0.94[ASN][1000 genomes]
rs2511718	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511719	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511730	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2734824	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3018443	0.80[ASN][1000 genomes]
rs56929055	0.87[ASN][1000 genomes]
rs72685110	0.87[ASN][1000 genomes]
rs72685117	0.94[ASN][1000 genomes]
rs72685118	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72685123	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72685128	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73276720	0.90[ASN][1000 genomes]
rs980112	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv3409107	chr8:103665226-103668974	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
4	esv3373038	chr8:103665601-103668149	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	57 gene(s)	inside rSNPs	diseases
5	esv3387688	chr8:103665726-103668424	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	57 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	chr8:103664000-103669600	Active TSS	Psoas Muscle	Psoas
2	chr8:103664200-103669200	Active TSS	HSMMtube	muscle
3	chr8:103664200-103670000	Active TSS	Right Atrium	heart
4	chr8:103664400-103668800	Active TSS	Right Ventricle	heart
5	chr8:103664600-103668600	Active TSS	Stomach Smooth Muscle	stomach
6	chr8:103664800-103669800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:103665000-103668800	Active TSS	Fetal Intestine Large	intestine
8	chr8:103665000-103668800	Active TSS	Fetal Intestine Small	intestine
9	chr8:103665000-103668800	Active TSS	Placenta	Placenta
10	chr8:103665000-103669000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr8:103665000-103670200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr8:103665200-103668800	Active TSS	K562	blood
13	chr8:103665200-103669000	Active TSS	Colon Smooth Muscle	Colon
14	chr8:103665200-103669200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:103665200-103670000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:103665200-103670000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:103665200-103670000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:103665400-103668600	Active TSS	Fetal Muscle Leg	muscle
19	chr8:103665400-103668800	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr8:103665400-103668800	Active TSS	Liver	Liver
21	chr8:103665400-103669000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:103665400-103669000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:103665400-103669000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:103665400-103669600	Active TSS	GM12878-XiMat	blood
25	chr8:103665600-103668800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:103665600-103668800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr8:103665600-103669000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:103665600-103669000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:103665600-103669000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:103665600-103669200	Active TSS	Aorta	Aorta
31	chr8:103665600-103669200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:103665600-103669200	Active TSS	Fetal Kidney	kidney
33	chr8:103665600-103670000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr8:103665800-103668600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:103665800-103668800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:103665800-103668800	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr8:103665800-103668800	Active TSS	Esophagus	oesophagus
38	chr8:103665800-103668800	Active TSS	NHEK	skin
39	chr8:103665800-103668800	Active TSS	NHLF	lung
40	chr8:103665800-103669000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:103665800-103669000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:103665800-103669000	Active TSS	Pancreas	Pancrea
43	chr8:103665800-103669000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr8:103665800-103669000	Active TSS	Small Intestine	intestine
45	chr8:103665800-103669000	Active TSS	Hela-S3	cervix
46	chr8:103665800-103669200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:103665800-103669200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:103665800-103669200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr8:103665800-103669200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:103665800-103669200	Active TSS	Muscle Satellite Cultured Cells	--

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