Variant report

Variant	rs181381098
Chromosome Location	chr12:9789669-9789670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 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	chr12:9789540-9789690	HMF	breast:	n/a	n/a
3	CTCF	chr12:9789520-9789670	AG04450	lung:	n/a	n/a
4	CTCF	chr12:9789620-9789770	HCT-116	colon:	n/a	n/a
5	CTCF	chr12:9789517-9789669	HepG2	liver:	n/a	n/a
6	CTCF	chr12:9789520-9789670	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr12:9789428-9789772	HepG2	liver:	n/a	n/a
8	CTCF	chr12:9789540-9789690	GM12874	blood:	n/a	n/a
9	CTCF	chr12:9789640-9789790	A549	lung:	n/a	n/a
10	CTCF	chr12:9789520-9789670	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr12:9789540-9789690	HepG2	liver:	n/a	n/a
12	CTCF	chr12:9789560-9789710	HCT-116	colon:	n/a	n/a
13	CTCF	chr12:9789660-9789810	GM12872	blood:	n/a	n/a
14	CTCF	chr12:9789580-9789730	K562	blood:	n/a	n/a
15	CTCF	chr12:9789600-9789750	AG09309	skin:	n/a	n/a
16	YY1	chr12:9789510-9789711	K562	blood:	n/a	n/a
17	CTCF	chr12:9789560-9789710	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr12:9789521-9789693	A549	lung:	n/a	n/a
19	CTCF	chr12:9789520-9789670	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr12:9789540-9789690	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr12:9789560-9789710	HEK293	kidney:	n/a	n/a
22	CTCF	chr12:9789540-9789690	BJ	skin:	n/a	n/a
23	CTCF	chr12:9789424-9789723	K562	blood:	n/a	n/a
24	CTCF	chr12:9789493-9789743	K562	blood:	n/a	n/a
25	CTCF	chr12:9789520-9789670	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr12:9789520-9789670	Caco-2	colon:	n/a	n/a
27	CTCF	chr12:9789484-9789682	HepG2	liver:	n/a	n/a
28	CTCF	chr12:9789520-9789670	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr12:9789483-9789713	K562	blood:	n/a	n/a
30	CTCF	chr12:9789600-9789750	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:9789506-9789703	Gliobla	brain:	n/a	n/a
32	CTCF	chr12:9789540-9789690	HVMF	connective:	n/a	n/a
33	CTCF	chr12:9789520-9789670	BE2_C	brain:	n/a	n/a
34	CTCF	chr12:9789660-9789810	HCM	heart:	n/a	n/a
35	CTCF	chr12:9789600-9789750	NHDF-neo	bronchial:	n/a	n/a
36	RCOR1	chr12:9789305-9789679	K562	blood:	n/a	n/a
37	CTCF	chr12:9789540-9789690	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr12:9789520-9789670	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr12:9789620-9789770	HVMF	connective:	n/a	n/a
40	CTCF	chr12:9789540-9789690	GM12873	blood:	n/a	n/a
41	CTCF	chr12:9789580-9789730	BE2_C	brain:	n/a	n/a
42	CTCF	chr12:9789520-9789670	HepG2	liver:	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:33 , 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	chr12:9784800-9792000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:9785400-9799400	Weak transcription	Fetal Brain Male	brain
5	chr12:9785600-9789800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:9786800-9792000	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:9787000-9789800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:9787400-9789800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:9787400-9791200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:9787400-9799800	Weak transcription	Pancreas	Pancrea
11	chr12:9787600-9791200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:9787600-9796200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:9788000-9795000	Weak transcription	Dnd41	blood
14	chr12:9788400-9790800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr12:9788400-9791000	Weak transcription	NHEK	skin
16	chr12:9788400-9795600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:9788600-9790000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr12:9788800-9790000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:9788800-9790200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:9788800-9790400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:9788800-9790600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:9788800-9790800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:9788800-9790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:9788800-9791000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:9788800-9792600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:9788800-9794200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:9789200-9789800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:9789200-9790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:9789200-9790400	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr12:9789200-9790600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:9789400-9789800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:9789400-9790800	Weak transcription	Primary T cells from cord blood	blood
33	chr12:9789600-9790000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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