Variant report

Variant	rs199795648
Chromosome Location	chr12:10547542-10547543
allele	C/T
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	GTF2F1	chr12:10547092-10547715	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:10546789-10549289	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr12:10546921-10548707	Hela-S3	cervix:	n/a	n/a
4	MYC	chr12:10547511-10547548	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr12:10547045-10549197	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:10547065-10549170	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:10546405-10556419	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr12:10546856-10547584	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:10547030-10548844	Hela-S3	cervix:	n/a	n/a
10	TFAP2C	chr12:10546933-10547553	Hela-S3	cervix:	n/a	n/a
11	FOS	chr12:10547399-10547546	MCF10A-Er-Src	breast:	n/a	n/a
12	CHD2	chr12:10547093-10547651	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:10547039-10547726	Hela-S3	cervix:	n/a	n/a
14	TFAP2A	chr12:10546919-10547569	Hela-S3	cervix:	n/a	chr12:10547181-10547195 chr12:10547181-10547195 chr12:10547181-10547195 chr12:10547183-10547193 chr12:10547183-10547193 chr12:10547183-10547193 chr12:10547179-10547194 chr12:10547183-10547193
15	MAX	chr12:10546880-10548691	Hela-S3	cervix:	n/a	n/a
16	TBP	chr12:10547108-10548848	Hela-S3	cervix:	n/a	n/a
17	RCOR1	chr12:10546916-10548661	Hela-S3	cervix:	n/a	n/a
18	USF2	chr12:10547122-10547566	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr12:10546999-10547736	Hela-S3	cervix:	n/a	n/a
20	EP300	chr12:10547015-10547671	Hela-S3	cervix:	n/a	n/a
21	FOS	chr12:10547271-10547547	MCF10A-Er-Src	breast:	n/a	n/a
22	RFX5	chr12:10547082-10547713	Hela-S3	cervix:	n/a	n/a
23	TAF1	chr12:10547069-10547754	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10527378..10530229-chr12:10546803..10548399,2	K562	blood:

Variant related genes	Relation type
KLRK1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10519600-10547800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:10534800-10548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:10542000-10549200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:10542800-10547800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:10543800-10547600	Enhancers	Hela-S3	cervix
6	chr12:10543800-10547800	Enhancers	Primary B cells from cord blood	blood
7	chr12:10544200-10548200	Enhancers	Primary T cells from cord blood	blood
8	chr12:10544400-10547800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:10544400-10548200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:10544400-10550800	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:10544600-10548800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:10544600-10549000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:10544800-10547800	Weak transcription	Adipose Nuclei	Adipose
14	chr12:10545200-10547800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:10545200-10548000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:10545400-10548000	Weak transcription	Fetal Lung	lung
17	chr12:10545400-10548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:10545400-10548000	Weak transcription	HSMMtube	muscle
19	chr12:10545400-10548200	Enhancers	NHEK	skin
20	chr12:10545400-10549000	Enhancers	HMEC	breast
21	chr12:10545600-10548400	Weak transcription	Esophagus	oesophagus
22	chr12:10545800-10547600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:10545800-10547600	Weak transcription	A549	lung
24	chr12:10545800-10547800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:10545800-10547800	Weak transcription	HSMM	muscle
26	chr12:10545800-10547800	Weak transcription	Osteobl	bone
27	chr12:10546000-10547600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:10546000-10547600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:10546000-10547800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:10546200-10547600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:10546200-10547600	Weak transcription	GM12878-XiMat	blood
32	chr12:10546200-10548000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:10546800-10548400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:10547000-10547800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr12:10547000-10548000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:10547000-10548200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:10547000-10548200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:10547000-10548600	Enhancers	Fetal Thymus	thymus
39	chr12:10547200-10547600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:10547200-10547800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:10547200-10548000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:10547200-10548000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr12:10547200-10548600	Enhancers	Placenta	Placenta
44	chr12:10547200-10548600	Enhancers	Thymus	Thymus
45	chr12:10547200-10549000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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