Variant report

Variant	rs617245
Chromosome Location	chr10:6244919-6244920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:506)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr10:6244601-6245119	ECC-1	luminal epithelium:	n/a	n/a
2	EBF1	chr10:6244300-6245122	GM12878	blood:	n/a	chr10:6244500-6244511
3	POLR2A	chr10:6244367-6246094	GM12891	blood:	n/a	n/a
4	RAD21	chr10:6244320-6245786	H1-hESC	embryonic stem cell:	n/a	n/a
5	CREB1	chr10:6244170-6245744	HepG2	liver:	n/a	n/a
6	JUND	chr10:6244472-6245096	K562	blood:	n/a	n/a
7	TEAD4	chr10:6244480-6245090	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr10:6244636-6245052	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAZ	chr10:6244586-6245682	Hela-S3	cervix:	n/a	n/a
10	BHLHE40	chr10:6244315-6245675	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:6244547-6245644	HUVEC	blood vessel:	n/a	n/a
12	EP300	chr10:6244475-6245042	H1-hESC	embryonic stem cell:	n/a	n/a
13	RCOR1	chr10:6244757-6245141	K562	blood:	n/a	n/a
14	POLR2A	chr10:6244595-6245178	PANC-1	pancreas:	n/a	n/a
15	FOSL2	chr10:6244313-6245424	A549	lung:	n/a	n/a
16	MXI1	chr10:6242644-6247076	SK-N-SH	brain:	n/a	n/a
17	ZNF143	chr10:6244306-6245646	H1-hESC	embryonic stem cell:	n/a	n/a
18	HEY1	chr10:6242414-6245097	HepG2	liver:	n/a	chr10:6243015-6243030 chr10:6243778-6243793
19	TEAD4	chr10:6244516-6245155	A549	lung:	n/a	n/a
20	ELK1	chr10:6244595-6245120	GM12878	blood:	n/a	n/a
21	JUND	chr10:6244644-6245025	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr10:6244293-6245183	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr10:6244642-6244962	MCF10A-Er-Src	breast:	n/a	n/a
24	PAX5	chr10:6244600-6244927	GM12891	blood:	n/a	n/a
25	POLR2A	chr10:6244625-6245146	PANC-1	pancreas:	n/a	n/a
26	YY1	chr10:6244526-6245128	GM12878	blood:	n/a	n/a
27	CEBPB	chr10:6244636-6245051	H1-hESC	embryonic stem cell:	n/a	n/a
28	FOXM1	chr10:6244504-6244964	GM12878	blood:	n/a	n/a
29	MXI1	chr10:6244381-6246278	GM12878	blood:	n/a	n/a
30	EGR1	chr10:6244619-6244997	K562	blood:	n/a	n/a
31	POLR2A	chr10:6244626-6245187	ECC-1	luminal epithelium:	n/a	n/a
32	SP1	chr10:6244196-6245871	A549	lung:	n/a	chr10:6244228-6244237 chr10:6244224-6244238
33	POLR2A	chr10:6244718-6245139	HepG2	liver:	n/a	n/a
34	POLR2A	chr10:6244469-6246266	H1-neurons	neurons:	n/a	n/a
35	CREB1	chr10:6244624-6245070	ECC-1	luminal epithelium:	n/a	n/a
36	RAD21	chr10:6244452-6245961	IMR90	lung:	n/a	n/a
37	TCF12	chr10:6243574-6247500	A549	lung:	n/a	chr10:6244120-6244127 chr10:6244121-6244131
38	POLR2A	chr10:6244559-6245325	PFSK-1	brain:	n/a	n/a
39	SIN3AK20	chr10:6244675-6244922	SK-N-SH	brain:	n/a	n/a
40	YY1	chr10:6244609-6244981	K562	blood:	n/a	n/a
41	MXI1	chr10:6244384-6245767	HepG2	liver:	n/a	n/a
42	POLR2A	chr10:6244640-6245454	GM12892	blood:	n/a	n/a
43	ZBTB7A	chr10:6244423-6245073	ECC-1	luminal epithelium:	n/a	n/a
44	EP300	chr10:6244546-6245056	T-47D	breast:	n/a	n/a
45	SIN3AK20	chr10:6244526-6245208	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr10:6244617-6245166	HCT-116	colon:	n/a	n/a
47	ZNF143	chr10:6244545-6245659	K562	blood:	n/a	n/a
48	RAD21	chr10:6244382-6244982	H1-hESC	embryonic stem cell:	n/a	n/a
49	EP300	chr10:6244657-6245038	GM12878	blood:	n/a	n/a
50	USF1	chr10:6244643-6244928	K562	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6244775..6245295-chr11:67195896..67196459,2	Hela-S3	cervix:
2	chr10:6244444..6246172-chr11:60928588..60930441,2	MCF-7	breast:
3	chr10:6129825..6133257-chr10:6241985..6247329,10	MCF-7	breast:
4	chr10:6244775..6245298-chr10:99205705..99206213,2	Hela-S3	cervix:
5	chr10:6129204..6131748-chr10:6244207..6246414,2	K562	blood:
6	chr10:6183735..6189299-chr10:6241759..6246920,10	MCF-7	breast:
7	chr10:6193518..6195996-chr10:6241964..6244930,2	MCF-7	breast:
8	chr10:6243696..6246547-chr17:56707857..56709473,2	MCF-7	breast:
9	chr10:6244869..6246858-chr17:56708954..56710918,2	MCF-7	breast:
10	chr10:5935195..5937102-chr10:6243588..6245241,2	MCF-7	breast:
11	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
12	chr10:6244272..6246403-chr13:37573169..37575216,2	MCF-7	breast:
13	chr10:6137316..6139736-chr10:6243153..6245060,3	MCF-7	breast:
14	chr10:6243668..6247308-chr10:6319585..6323356,5	MCF-7	breast:
15	chr10:6198072..6199793-chr10:6244896..6246657,2	MCF-7	breast:
16	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:
17	chr10:6242187..6248014-chr10:6262246..6271624,18	MCF-7	breast:
18	chr10:6128377..6132115-chr10:6241834..6247197,6	MCF-7	breast:
19	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
20	chr10:6189894..6192661-chr10:6244759..6246996,2	MCF-7	breast:
21	chr10:6244893..6245446-chr17:59477663..59478588,2	MCF-7	breast:
22	chr10:6244071..6246577-chr11:62606915..62609638,2	MCF-7	breast:
23	chr10:6145584..6148508-chr10:6244741..6246500,2	MCF-7	breast:
24	chr10:6244886..6245402-chr11:64645653..64646532,2	Hela-S3	cervix:
25	chr10:6186531..6187074-chr10:6244769..6245442,2	MCF-7	breast:
26	chr10:5930925..5933506-chr10:6244058..6246915,2	MCF-7	breast:
27	chr10:6242739..6248482-chr10:6257769..6263853,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213994	TF binding region
ENSG00000175634	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000263628	Chromatin interaction
ENSG00000167987	Chromatin interaction
ENSG00000120699	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000201581	Chromatin interaction
ENSG00000215244	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000171307	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs619797	0.92[AFR][1000 genomes]
rs672376	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv894832	chr10:6237156-6253651	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv894833	chr10:6237156-6261704	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv894834	chr10:6237156-6272169	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv521145	chr10:6241803-6246678	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv894835	chr10:6242176-6268422	Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	esv3441356	chr10:6243771-6246319	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr10:6242600-6246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:6242800-6245400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr10:6242800-6245400	Flanking Active TSS	HMEC	breast
4	chr10:6242800-6246400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr10:6242800-6246400	Active TSS	Colon Smooth Muscle	Colon
6	chr10:6242800-6246400	Active TSS	Ovary	ovary
7	chr10:6242800-6246600	Active TSS	Placenta Amnion	Placenta Amnion
8	chr10:6242800-6246600	Active TSS	Psoas Muscle	Psoas
9	chr10:6242800-6247000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr10:6242800-6247400	Active TSS	Fetal Kidney	kidney
11	chr10:6242800-6247800	Active TSS	Aorta	Aorta
12	chr10:6243000-6246600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr10:6243600-6245200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr10:6243600-6245200	Flanking Active TSS	Fetal Thymus	thymus
15	chr10:6243600-6245200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr10:6243600-6245400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr10:6243600-6246600	Active TSS	HSMMtube	muscle
18	chr10:6243600-6247200	Flanking Active TSS	Liver	Liver
19	chr10:6243600-6247200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr10:6243800-6245000	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr10:6243800-6245000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr10:6243800-6245000	Flanking Active TSS	Spleen	Spleen
23	chr10:6243800-6245200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr10:6243800-6245800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:6243800-6247400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:6244200-6246800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:6244400-6245200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:6244400-6245600	Active TSS	A549	lung
29	chr10:6244400-6246200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:6244400-6246400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr10:6244400-6246400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr10:6244400-6246400	Active TSS	Brain Angular Gyrus	brain
33	chr10:6244400-6246600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr10:6244400-6246600	Active TSS	Small Intestine	intestine
35	chr10:6244600-6245000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:6244600-6245000	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr10:6244600-6245000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:6244600-6245000	Active TSS	Pancreas	Pancrea
39	chr10:6244600-6245400	Flanking Active TSS	Placenta	Placenta
40	chr10:6244600-6245600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr10:6244600-6245600	Active TSS	Adipose Nuclei	Adipose
42	chr10:6244600-6245600	Weak transcription	Fetal Heart	heart
43	chr10:6244600-6245600	Active TSS	Fetal Muscle Leg	muscle
44	chr10:6244600-6245800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:6244600-6245800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr10:6244600-6245800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr10:6244600-6245800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr10:6244600-6245800	Active TSS	Fetal Intestine Small	intestine
49	chr10:6244600-6245800	Active TSS	Fetal Muscle Trunk	muscle
50	chr10:6244600-6245800	Active TSS	Fetal Stomach	stomach

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