Variant report

Variant	rs2511730
Chromosome Location	chr8:103670038-103670039
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	REST	chr8:103669414-103670059	PFSK-1	brain:	n/a	chr8:103669901-103669914 chr8:103669622-103669632
3	POLR2A	chr8:103658281-103671095	U87	brain:	n/a	n/a
4	POLR2A	chr8:103665935-103670221	GM12892	blood:	n/a	n/a
5	MAX	chr8:103667167-103670359	A549	lung:	n/a	chr8:103668327-103668342 chr8:103668327-103668336 chr8:103668331-103668340
6	SIN3AK20	chr8:103665549-103670042	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:103667337-103671078	GM12891	blood:	n/a	n/a
8	NFIC	chr8:103669359-103670053	SK-N-SH	brain:	n/a	n/a
9	TBP	chr8:103669082-103670200	Hela-S3	cervix:	n/a	n/a
10	MAFK	chr8:103669411-103670139	Hela-S3	cervix:	n/a	n/a
11	ZBTB7A	chr8:103666642-103670099	ECC-1	luminal epithelium:	n/a	chr8:103667727-103667736 chr8:103666866-103666875 chr8:103667201-103667208
12	POLR2A	chr8:103665746-103670407	Hela-S3	cervix:	n/a	n/a
13	SMARCB1	chr8:103665893-103670245	Hela-S3	cervix:	n/a	chr8:103666203-103666212
14	EP300	chr8:103669629-103670896	GM12878	blood:	n/a	n/a
15	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
16	POLR2A	chr8:103669395-103670150	Hela-S3	cervix:	n/a	n/a
17	TEAD4	chr8:103669372-103670166	ECC-1	luminal epithelium:	n/a	chr8:103669885-103669894
18	MXI1	chr8:103665181-103670954	IMR90	lung:	n/a	chr8:103668330-103668339 chr8:103668328-103668337 chr8:103667095-103667104
19	POLR2A	chr8:103669365-103670216	HepG2	liver:	n/a	n/a
20	EBF1	chr8:103670009-103670149	GM12878	blood:	n/a	n/a
21	BATF	chr8:103669730-103670227	GM12878	blood:	n/a	n/a
22	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
23	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
24	GABPA	chr8:103669430-103670062	A549	lung:	n/a	n/a
25	POLR2A	chr8:103664516-103670221	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr8:103665834-103671111	GM19099	blood:	n/a	n/a
27	TCF12	chr8:103669192-103670150	ECC-1	luminal epithelium:	n/a	chr8:103669895-103669905 chr8:103669898-103669908
28	POLR2A	chr8:103665660-103670378	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr8:103665982-103671233	GM18505	blood:	n/a	n/a
30	CTBP2	chr8:103669590-103670051	H1-hESC	embryonic stem cell:	n/a	n/a
31	HEY1	chr8:103669196-103670096	HepG2	liver:	n/a	n/a
32	POLR2A	chr8:103665972-103670172	GM18951	blood:	n/a	n/a
33	TCF12	chr8:103666838-103670072	A549	lung:	n/a	chr8:103667041-103667051 chr8:103667095-103667105 chr8:103666989-103666999 chr8:103669895-103669905 chr8:103669898-103669908
34	TEAD4	chr8:103669621-103670114	H1-hESC	embryonic stem cell:	n/a	chr8:103669885-103669894
35	TEAD4	chr8:103669658-103670093	H1-hESC	embryonic stem cell:	n/a	chr8:103669885-103669894
36	BATF	chr8:103669804-103670113	GM12878	blood:	n/a	n/a
37	ATF2	chr8:103669428-103670163	GM12878	blood:	n/a	n/a
38	MAZ	chr8:103669525-103670146	GM12878	blood:	n/a	n/a
39	STAT1	chr8:103669975-103670152	GM12878	blood:	n/a	n/a
40	BCLAF1	chr8:103669462-103670098	GM12878	blood:	n/a	chr8:103669548-103669561 chr8:103669795-103669808 chr8:103669619-103669632
41	POLR2A	chr8:103658275-103671134	U87	brain:	n/a	n/a
42	EP300	chr8:103669209-103670547	ECC-1	luminal epithelium:	n/a	n/a
43	MTA3	chr8:103669738-103670930	GM12878	blood:	n/a	n/a
44	CEBPB	chr8:103669437-103670388	Hela-S3	cervix:	n/a	n/a
45	NFIC	chr8:103669489-103670331	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:103665705-103670630	GM12878	blood:	n/a	n/a
47	MAX	chr8:103669253-103670082	GM12878	blood:	n/a	n/a
48	RCOR1	chr8:103669384-103670122	Hela-S3	cervix:	n/a	n/a
49	PML	chr8:103669456-103670361	GM12878	blood:	n/a	n/a
50	ELF1	chr8:103669392-103670080	GM12878	blood:	n/a	chr8:103669635-103669648

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

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

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12546601	0.93[ASN][1000 genomes]
rs12547574	0.97[ASN][1000 genomes]
rs12548858	0.85[ASN][1000 genomes]
rs12549399	0.85[ASN][1000 genomes]
rs12674646	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12675196	0.88[ASN][1000 genomes]
rs12675239	0.88[ASN][1000 genomes]
rs12680362	0.96[ASN][1000 genomes]
rs12680598	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12680908	0.85[ASN][1000 genomes]
rs12682093	0.93[ASN][1000 genomes]
rs16869676	0.93[ASN][1000 genomes]
rs16869695	0.94[ASN][1000 genomes]
rs16869724	0.83[ASN][1000 genomes]
rs2436946	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2471847	0.94[ASN][1000 genomes]
rs2511718	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511719	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511720	0.83[YRI][hapmap]
rs2511721	1.00[YRI][hapmap]
rs2734824	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2916570	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3018443	0.81[ASN][1000 genomes]
rs56929055	0.87[ASN][1000 genomes]
rs72685110	0.88[ASN][1000 genomes]
rs72685117	0.95[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];0.97[ASN][1000 genomes]
rs73276720	0.90[ASN][1000 genomes]
rs9642792	0.80[ASN][1000 genomes]
rs965660	0.83[CEU][hapmap]
rs980112	0.85[AMR][1000 genomes];0.97[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	chr8:103665000-103670200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr8:103667800-103671000	Enhancers	Fetal Heart	heart
3	chr8:103668400-103670400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr8:103668400-103670400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:103668400-103670600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:103668600-103670200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr8:103668600-103670200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:103668600-103670200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:103668600-103670200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr8:103668600-103670400	Flanking Active TSS	Osteobl	bone
11	chr8:103668600-103670600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:103668600-103670600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr8:103668600-103671200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr8:103668800-103670200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:103668800-103670200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:103668800-103670200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:103668800-103670200	Flanking Active TSS	HMEC	breast
18	chr8:103668800-103670400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:103668800-103670400	Flanking Active TSS	HUVEC	blood vessel
20	chr8:103668800-103670400	Flanking Active TSS	NH-A	brain
21	chr8:103668800-103670600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:103668800-103670600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr8:103669000-103670200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:103669000-103670200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr8:103669000-103670400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:103669000-103670400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:103669000-103670400	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr8:103669000-103670600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:103669000-103670800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr8:103669000-103670800	Flanking Active TSS	Hela-S3	cervix
31	chr8:103669200-103670200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:103669200-103670200	Weak transcription	Aorta	Aorta
33	chr8:103669200-103670200	Flanking Active TSS	HSMMtube	muscle
34	chr8:103669200-103670200	Flanking Active TSS	NHLF	lung
35	chr8:103669200-103670400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr8:103669200-103670400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:103669200-103670600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:103669200-103670600	Flanking Active TSS	HSMM	muscle
39	chr8:103669200-103671000	Enhancers	Small Intestine	intestine
40	chr8:103669400-103670200	Flanking Active TSS	NHDF-Ad	bronchial
41	chr8:103669400-103670400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:103669400-103670600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:103669400-103670600	Enhancers	Brain Angular Gyrus	brain
44	chr8:103669400-103670800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr8:103669400-103670800	Enhancers	Stomach Mucosa	stomach
46	chr8:103669400-103671000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:103669400-103671000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:103669400-103671000	Enhancers	Spleen	Spleen
49	chr8:103669400-103674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:103669600-103670200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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