Variant report

Variant	rs11598250
Chromosome Location	chr10:94416521-94416522
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	chr10:94416347-94416609	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr10:94416130-94416636	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr10:94415139-94417849	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr10:94416337-94416616	HCT-116	colon:	n/a	n/a
5	ELF1	chr10:94416373-94416657	K562	blood:	n/a	chr10:94416483-94416496
6	POLR2A	chr10:94416140-94417910	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:94416121-94416573	K562	blood:	n/a	n/a
8	POLR2A	chr10:94416263-94417030	H1-hESC	embryonic stem cell:	n/a	n/a
9	MTA3	chr10:94416165-94416666	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:94416051-94416732	HCT-116	colon:	n/a	n/a
11	POLR2A	chr10:94416114-94417081	A549	lung:	n/a	n/a
12	POLR2A	chr10:94416013-94417124	HL-60	blood:	n/a	n/a
13	POLR2A	chr10:94416267-94417081	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr10:94416394-94416573	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:94416264-94416972	K562	blood:	n/a	n/a
16	POLR2A	chr10:94416509-94416528	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr10:94416091-94416929	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr10:94416086-94417773	GM12891	blood:	n/a	n/a
19	NFYB	chr10:94416435-94416687	K562	blood:	n/a	chr10:94416547-94416562
20	POLR2A	chr10:94416261-94417931	U87	brain:	n/a	n/a
21	POLR2A	chr10:94415581-94417133	GM12878	blood:	n/a	n/a
22	NFYB	chr10:94416422-94416762	GM12878	blood:	n/a	chr10:94416547-94416562
23	NFYB	chr10:94416519-94416672	Hela-S3	cervix:	n/a	chr10:94416547-94416562
24	POLR2A	chr10:94414317-94417721	K562	blood:	n/a	n/a
25	POLR2A	chr10:94416339-94416680	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr10:94415952-94416549	K562	blood:	n/a	n/a
27	POLR2A	chr10:94416062-94416708	MCF-7	breast:	n/a	n/a
28	POLR2A	chr10:94415954-94417971	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr10:94416164-94417931	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94353767..94355428-chr10:94415113..94417602,2	MCF-7	breast:
2	chr10:94415353..94417803-chr10:94419120..94421104,2	K562	blood:

Variant related genes	Relation type
RN7SL644P	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11187083	0.91[ASN][1000 genomes]
rs11187087	0.91[ASN][1000 genomes]
rs11187100	0.91[ASN][1000 genomes]
rs11187102	0.91[ASN][1000 genomes]
rs11187104	0.91[ASN][1000 genomes]
rs11187120	0.96[ASN][1000 genomes]
rs11597699	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11812310	0.91[ASN][1000 genomes]
rs11812813	0.85[ASN][1000 genomes]
rs11813238	0.91[ASN][1000 genomes]
rs11816962	0.87[ASN][1000 genomes]
rs11817798	0.91[ASN][1000 genomes]
rs11818332	0.91[ASN][1000 genomes]
rs11818705	0.87[ASN][1000 genomes]
rs11818708	0.89[ASN][1000 genomes]
rs11818750	0.91[ASN][1000 genomes]
rs11819301	0.91[ASN][1000 genomes]
rs11819351	0.91[ASN][1000 genomes]
rs12242681	0.91[ASN][1000 genomes]
rs12244573	0.91[ASN][1000 genomes]
rs12244924	0.91[ASN][1000 genomes]
rs12250905	0.89[ASN][1000 genomes]
rs12257279	0.91[ASN][1000 genomes]
rs12260688	0.91[ASN][1000 genomes]
rs12261697	0.89[ASN][1000 genomes]
rs12262781	0.98[ASN][1000 genomes]
rs12264372	0.91[ASN][1000 genomes]
rs17107758	0.91[ASN][1000 genomes]
rs17107764	0.91[ASN][1000 genomes]
rs17875340	0.91[ASN][1000 genomes]
rs2488058	0.98[ASN][1000 genomes]
rs2497319	0.98[ASN][1000 genomes]
rs2497320	0.98[ASN][1000 genomes]
rs28615450	0.89[ASN][1000 genomes]
rs28692618	0.91[ASN][1000 genomes]
rs3781236	0.91[ASN][1000 genomes]
rs4604791	0.91[ASN][1000 genomes]
rs58071219	0.91[ASN][1000 genomes]
rs58988864	0.91[ASN][1000 genomes]
rs6583829	0.91[ASN][1000 genomes]
rs6583832	0.91[ASN][1000 genomes]
rs6583834	0.98[ASN][1000 genomes]
rs6583837	0.98[ASN][1000 genomes]
rs7076842	0.98[ASN][1000 genomes]
rs7084441	0.91[ASN][1000 genomes]
rs7085790	0.91[ASN][1000 genomes]
rs7087860	0.91[ASN][1000 genomes]
rs7088685	0.91[ASN][1000 genomes]
rs7096520	0.91[ASN][1000 genomes]
rs73311731	0.98[ASN][1000 genomes]
rs73325701	0.91[ASN][1000 genomes]
rs7893798	0.93[ASN][1000 genomes]
rs7898478	0.87[ASN][1000 genomes]
rs7898506	0.91[ASN][1000 genomes]
rs7902436	0.91[ASN][1000 genomes]
rs7915915	0.91[ASN][1000 genomes]
rs7917359	0.91[ASN][1000 genomes]
rs7922902	0.91[ASN][1000 genomes]
rs9731595	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1799475	chr10:94392728-94450386	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv1801116	chr10:94392728-94450386	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv1839570	chr10:94392728-94450386	Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv1837497	chr10:94392728-94452430	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv1794949	chr10:94392728-94465559	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv825517	chr10:94397149-94472509	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv825518	chr10:94403446-94467700	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1798525	chr10:94404824-94450386	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	esv1799618	chr10:94404824-94450386	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv1801775	chr10:94404824-94450386	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	esv1837596	chr10:94404824-94450386	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	esv1840926	chr10:94404824-94450386	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	esv1842618	chr10:94404824-94450386	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
17	esv1802456	chr10:94404824-94452430	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	esv1846797	chr10:94414263-94450386	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	esv1851354	chr10:94414263-94450386	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	esv1851372	chr10:94414263-94450386	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94354000-94420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:94364200-94417400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr10:94371000-94417000	Weak transcription	Primary B cells from cord blood	blood
4	chr10:94374800-94418600	Weak transcription	Brain Germinal Matrix	brain
5	chr10:94396400-94418200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:94398400-94421200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:94400200-94416800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:94404400-94416800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:94409800-94417000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:94411000-94416600	Strong transcription	Thymus	Thymus
11	chr10:94411000-94417400	Weak transcription	Fetal Lung	lung
12	chr10:94412400-94417600	Weak transcription	Fetal Stomach	stomach
13	chr10:94413200-94417000	Weak transcription	HepG2	liver
14	chr10:94413400-94416800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:94413400-94416800	Weak transcription	NHLF	lung
16	chr10:94413400-94417200	Weak transcription	Fetal Intestine Large	intestine
17	chr10:94413400-94420200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:94413600-94416800	Weak transcription	Hela-S3	cervix
19	chr10:94413600-94417000	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:94413600-94417000	Weak transcription	NH-A	brain
21	chr10:94413600-94418000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:94413800-94417200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:94414000-94418200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:94414200-94416600	Strong transcription	HUVEC	blood vessel
25	chr10:94414800-94418800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:94415000-94416600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr10:94415000-94416600	Strong transcription	A549	lung
28	chr10:94415200-94417000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:94415400-94417000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:94415400-94417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:94415400-94417200	Weak transcription	HSMM	muscle
32	chr10:94415400-94417400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr10:94415400-94418400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:94415600-94417200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr10:94415600-94417200	Weak transcription	Fetal Thymus	thymus
36	chr10:94415600-94417200	Weak transcription	K562	blood
37	chr10:94415600-94417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:94415600-94417400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:94415600-94417800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:94415800-94417400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:94415800-94417400	Weak transcription	HMEC	breast
42	chr10:94415800-94417400	Weak transcription	NHDF-Ad	bronchial
43	chr10:94415800-94417800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr10:94415800-94417800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr10:94415800-94418000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr10:94415800-94418200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:94416000-94416600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr10:94416000-94416600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr10:94416000-94416800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:94416000-94417800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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