Variant report

Variant	rs185000810
Chromosome Location	chr12:10538273-10538274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr12:10537810-10538273	A549	lung:	n/a	n/a
2	TBP	chr12:10537950-10538297	Hela-S3	cervix:	n/a	n/a
3	FOS	chr12:10537660-10538340	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr12:10537782-10538274	A549	lung:	n/a	n/a
5	NFIC	chr12:10537745-10538399	ECC-1	luminal epithelium:	n/a	n/a
6	FOS	chr12:10537781-10538363	MCF10A-Er-Src	breast:	n/a	n/a
7	NR3C1	chr12:10537899-10538273	ECC-1	luminal epithelium:	n/a	n/a
8	NR3C1	chr12:10537903-10538369	A549	lung:	n/a	n/a
9	MAFK	chr12:10537729-10538396	Hela-S3	cervix:	n/a	n/a
10	MYC	chr12:10537857-10538332	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr12:10537750-10538323	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:10537990-10538486	Hela-S3	cervix:	n/a	n/a
13	FOXA1	chr12:10537775-10538286	A549	lung:	n/a	n/a
14	MYC	chr12:10537860-10538341	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10516092..10519058-chr12:10537972..10540241,2	K562	blood:
2	chr12:10536735..10538905-chr12:10543028..10545121,2	MCF-7	breast:
3	chr12:10537029..10538774-chr12:10541549..10544546,2	K562	blood:

No data

Variant related genes	Relation type
KLRK1	TF binding region
ENSG00000245648	Chromatin interaction
ENSG00000213809	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10519600-10547800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:10525400-10547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10527600-10538600	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:10531200-10544400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:10533200-10541400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:10533600-10538600	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr12:10533800-10539000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:10533800-10544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:10534600-10544600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:10534800-10542000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:10534800-10544400	Weak transcription	NHEK	skin
12	chr12:10534800-10548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:10536200-10542800	Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:10537200-10542800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:10537400-10538800	Enhancers	Hela-S3	cervix
16	chr12:10537400-10543000	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr12:10537600-10538400	Enhancers	Osteobl	bone
18	chr12:10537600-10538600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:10537600-10540000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:10537800-10538400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr12:10537800-10538400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:10537800-10538800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:10538000-10538400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:10538000-10538400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:10538000-10538400	Enhancers	HMEC	breast
26	chr12:10538000-10539600	Weak transcription	Primary B cells from cord blood	blood
27	chr12:10538000-10541200	Active TSS	Primary T cells from cord blood	blood
28	chr12:10538200-10538400	Enhancers	Fetal Intestine Large	intestine

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