Variant report

Variant	rs182565102
Chromosome Location	chr12:10547966-10547967
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:10547799-10548619	GM12878	blood:	n/a	n/a
2	SPI1	chr12:10547891-10548288	GM12878	blood:	n/a	n/a
3	FOXM1	chr12:10547901-10548593	GM12878	blood:	n/a	n/a
4	EP300	chr12:10547891-10548484	GM12878	blood:	n/a	n/a
5	STAT3	chr12:10547837-10548559	GM12878	blood:	n/a	chr12:10548045-10548052
6	POLR2A	chr12:10547837-10548688	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr12:10547846-10548575	GM12878	blood:	n/a	n/a
8	SPI1	chr12:10547866-10548273	GM12891	blood:	n/a	n/a
9	MTA3	chr12:10547806-10548446	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:10547891-10548663	HL-60	blood:	n/a	n/a
11	NFIC	chr12:10547864-10548579	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:10546789-10549289	Hela-S3	cervix:	n/a	n/a
13	MEF2A	chr12:10547819-10548336	GM12878	blood:	n/a	n/a
14	TCF7L2	chr12:10546921-10548707	Hela-S3	cervix:	n/a	n/a
15	RCOR1	chr12:10547864-10548629	GM12878	blood:	n/a	n/a
16	SPI1	chr12:10547953-10548323	GM12891	blood:	n/a	n/a
17	FOXM1	chr12:10547866-10548452	GM12878	blood:	n/a	n/a
18	ATF2	chr12:10547858-10548386	GM12878	blood:	n/a	n/a
19	CHD1	chr12:10547832-10548581	GM12878	blood:	n/a	n/a
20	KAP1	chr12:10547944-10548582	HEK293	kidney:	n/a	n/a
21	MAX	chr12:10547825-10548317	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:10547045-10549197	Hela-S3	cervix:	n/a	n/a
23	BCLAF1	chr12:10547846-10548369	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:10547065-10549170	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr12:10546405-10556419	Hela-S3	cervix:	n/a	n/a
26	SPI1	chr12:10547894-10548240	HL-60	blood:	n/a	n/a
27	RUNX3	chr12:10547851-10548650	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:10547030-10548844	Hela-S3	cervix:	n/a	n/a
29	RFX5	chr12:10547955-10548686	Hela-S3	cervix:	n/a	n/a
30	ELK1	chr12:10547870-10548226	GM12878	blood:	n/a	n/a
31	TBP	chr12:10547881-10548428	GM12878	blood:	n/a	n/a
32	SP1	chr12:10547844-10548413	GM12878	blood:	n/a	n/a
33	ZNF143	chr12:10547945-10548089	GM12878	blood:	n/a	n/a
34	BCL11A	chr12:10547875-10548349	GM12878	blood:	n/a	n/a
35	EP300	chr12:10547935-10548679	Hela-S3	cervix:	n/a	n/a
36	EP300	chr12:10547809-10548646	GM12878	blood:	n/a	n/a
37	CUX1	chr12:10547878-10548550	GM12878	blood:	n/a	n/a
38	BCL11A	chr12:10547793-10548282	GM12878	blood:	n/a	n/a
39	CHD2	chr12:10547924-10548571	GM12878	blood:	n/a	n/a
40	MAX	chr12:10546880-10548691	Hela-S3	cervix:	n/a	n/a
41	SMC3	chr12:10547864-10548706	Hela-S3	cervix:	n/a	n/a
42	SPI1	chr12:10547771-10548380	HL-60	blood:	n/a	n/a
43	TBP	chr12:10547108-10548848	Hela-S3	cervix:	n/a	n/a
44	NFIC	chr12:10547826-10548692	GM12878	blood:	n/a	n/a
45	POU2F2	chr12:10547954-10548626	GM12878	blood:	n/a	n/a
46	BHLHE40	chr12:10547847-10548665	GM12878	blood:	n/a	n/a
47	IKZF1	chr12:10547941-10548561	GM12878	blood:	n/a	n/a
48	RUNX3	chr12:10547837-10548686	GM12878	blood:	n/a	n/a
49	RCOR1	chr12:10546916-10548661	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr12:10547909-10548243	GM12891	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10527378..10530229-chr12:10546803..10548399,2	K562	blood:
2	chr12:10547736..10550018-chr12:10555798..10557891,2	MCF-7	breast:

No data

Variant related genes	Relation type
KLRK1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv8914	chr12:10532300-10662676	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv557456	chr12:10532326-10698255	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv898764	chr12:10537269-10698255	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv898765	chr12:10537269-10701992	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv430461	chr12:10539815-10554033	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv557457	chr12:10545925-10698255	Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv557458	chr12:10546140-10698255	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1051292	chr12:10547900-10596720	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10534800-10548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10542000-10549200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:10544200-10548200	Enhancers	Primary T cells from cord blood	blood
4	chr12:10544400-10548200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:10544400-10550800	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:10544600-10548800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:10544600-10549000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:10545200-10548000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:10545400-10548000	Weak transcription	Fetal Lung	lung
10	chr12:10545400-10548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:10545400-10548000	Weak transcription	HSMMtube	muscle
12	chr12:10545400-10548200	Enhancers	NHEK	skin
13	chr12:10545400-10549000	Enhancers	HMEC	breast
14	chr12:10545600-10548400	Weak transcription	Esophagus	oesophagus
15	chr12:10546200-10548000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:10546800-10548400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:10547000-10548000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:10547000-10548200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:10547000-10548200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:10547000-10548600	Enhancers	Fetal Thymus	thymus
21	chr12:10547200-10548000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:10547200-10548000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:10547200-10548600	Enhancers	Placenta	Placenta
24	chr12:10547200-10548600	Enhancers	Thymus	Thymus
25	chr12:10547200-10549000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:10547600-10548000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:10547600-10548000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:10547600-10548000	Enhancers	Brain Hippocampus Middle	brain
29	chr12:10547600-10548000	Enhancers	A549	lung
30	chr12:10547600-10548200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr12:10547600-10548200	Enhancers	Stomach Smooth Muscle	stomach
32	chr12:10547600-10548400	Flanking Active TSS	Hela-S3	cervix
33	chr12:10547600-10548600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr12:10547600-10548600	Enhancers	Fetal Intestine Small	intestine
35	chr12:10547600-10549000	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:10547800-10548000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr12:10547800-10548000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr12:10547800-10548000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr12:10547800-10548000	Enhancers	Adipose Nuclei	Adipose
40	chr12:10547800-10548000	Enhancers	Brain Substantia Nigra	brain
41	chr12:10547800-10548000	Enhancers	Colon Smooth Muscle	Colon
42	chr12:10547800-10548000	Enhancers	Duodenum Mucosa	Duodenum
43	chr12:10547800-10548000	Enhancers	NHDF-Ad	bronchial
44	chr12:10547800-10548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:10547800-10548200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:10547800-10548200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:10547800-10548200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:10547800-10548200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:10547800-10548200	Enhancers	Osteobl	bone
50	chr12:10547800-10548400	Enhancers	Stomach Mucosa	stomach

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