Variant report

Variant	rs187237886
Chromosome Location	chr12:9789443-9789444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:9789437-9789742	K562	blood:	n/a	n/a
2	CTCF	chr12:9789428-9789772	HepG2	liver:	n/a	n/a
3	EP300	chr12:9789372-9789594	K562	blood:	n/a	n/a
4	ZNF143	chr12:9789440-9789612	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:9789320-9789470	A549	lung:	n/a	n/a
6	CTCF	chr12:9789424-9789723	K562	blood:	n/a	n/a
7	CTCF	chr12:9789440-9789590	GM06990	blood:	n/a	n/a
8	RCOR1	chr12:9789305-9789679	K562	blood:	n/a	n/a
9	TAL1	chr12:9789273-9789563	K562	blood:	n/a	n/a
10	CTCF	chr12:9789440-9789590	HRPEpiC	eye:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:9786143..9793024-chr12:9797652..9803573,13	MCF-7	breast:
2	chr12:9787751..9790027-chr12:9840631..9842655,2	MCF-7	breast:
3	chr12:9786328..9788433-chr12:9788788..9791540,2	K562	blood:

No data

Variant related genes	Relation type
GOT2P3	TF binding region
ENSG00000256594	Chromatin interaction
ENSG00000256442	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv983280	chr12:9787339-9796334	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9771600-9794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:9771600-9799200	Weak transcription	Fetal Lung	lung
3	chr12:9784600-9789600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:9784800-9792000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:9785400-9799400	Weak transcription	Fetal Brain Male	brain
6	chr12:9785600-9789800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:9786800-9792000	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:9787000-9789600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:9787000-9789600	Enhancers	GM12878-XiMat	blood
10	chr12:9787000-9789800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:9787400-9789800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:9787400-9791200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:9787400-9799800	Weak transcription	Pancreas	Pancrea
14	chr12:9787600-9791200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:9787600-9796200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:9788000-9795000	Weak transcription	Dnd41	blood
17	chr12:9788400-9790800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr12:9788400-9791000	Weak transcription	NHEK	skin
19	chr12:9788400-9795600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:9788600-9790000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr12:9788800-9790000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:9788800-9790200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:9788800-9790400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:9788800-9790600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:9788800-9790800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:9788800-9790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:9788800-9791000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:9788800-9792600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:9788800-9794200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:9789200-9789600	Enhancers	K562	blood
31	chr12:9789200-9789800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:9789200-9790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:9789200-9790400	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr12:9789200-9790600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:9789400-9789800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:9789400-9790800	Weak transcription	Primary T cells from cord blood	blood

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