Variant report

Variant	rs2291116
Chromosome Location	chr12:122332727-122332728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:122332680-122332830	HVMF	connective:	n/a	n/a
2	CTCF	chr12:122332680-122332830	A549	lung:	n/a	n/a
3	CTCF	chr12:122332700-122332850	SAEC	small airway:	n/a	n/a
4	CTCF	chr12:122332680-122332830	AG04449	skin:	n/a	n/a
5	CTCF	chr12:122332700-122332850	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr12:122332700-122332850	GM06990	blood:	n/a	n/a
7	CTCF	chr12:122332678-122332884	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr12:122332660-122332810	HEK293	kidney:	n/a	n/a
9	CTCF	chr12:122332701-122332865	Medullo	brain:	n/a	n/a
10	CTCF	chr12:122332700-122332850	HCT-116	colon:	n/a	n/a
11	CTCF	chr12:122332700-122332850	HepG2	liver:	n/a	n/a
12	CTCF	chr12:122332640-122332790	GM12864	blood:	n/a	n/a
13	CTCF	chr12:122332700-122332850	GM12865	blood:	n/a	n/a
14	CTCF	chr12:122332660-122332810	AG10803	skin:	n/a	n/a
15	CTCF	chr12:122332600-122332750	GM12872	blood:	n/a	n/a
16	CTCF	chr12:122332720-122332870	K562	blood:	n/a	n/a
17	SMC3	chr12:122332642-122332880	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr12:122332680-122332830	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr12:122332707-122332794	GM19240	blood:	n/a	n/a
20	CTCF	chr12:122332700-122332850	BJ	skin:	n/a	n/a
21	CTCF	chr12:122332680-122332830	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr12:122332605-122332870	K562	blood:	n/a	n/a
23	CTCF	chr12:122332681-122332846	MCF-7	breast:	n/a	n/a
24	RAD21	chr12:122332590-122332830	HepG2	liver:	n/a	n/a
25	CTCF	chr12:122332660-122332810	GM12870	blood:	n/a	n/a
26	CTCF	chr12:122332720-122332870	GM12865	blood:	n/a	n/a
27	CTCF	chr12:122332677-122332797	GM12891	blood:	n/a	n/a
28	CTCF	chr12:122332665-122332896	HepG2	liver:	n/a	n/a
29	CTCF	chr12:122332720-122332870	GM12873	blood:	n/a	n/a
30	CTCF	chr12:122332680-122332830	AG09319	gingival:	n/a	n/a
31	CTCF	chr12:122332676-122332806	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:122332700-122332850	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr12:122332724-122332778	NHEK	skin:	n/a	n/a
34	CTCF	chr12:122332692-122332816	GM19238	blood:	n/a	n/a
35	SMC3	chr12:122332629-122332838	K562	blood:	n/a	n/a
36	HNF4A	chr12:122332540-122332816	HepG2	liver:	n/a	chr12:122332563-122332585
37	CTCF	chr12:122332660-122332810	GM12866	blood:	n/a	n/a
38	SMC3	chr12:122332688-122332901	GM12878	blood:	n/a	n/a
39	CTCF	chr12:122332649-122332882	A549	lung:	n/a	n/a
40	CTCF	chr12:122332632-122332936	IMR90	lung:	n/a	n/a
41	CTCF	chr12:122332660-122332810	GM12878	blood:	n/a	n/a
42	CTCF	chr12:122332700-122332850	AG09309	skin:	n/a	n/a
43	HNF4A	chr12:122332546-122332893	HepG2	liver:	n/a	chr12:122332563-122332585
44	HNF4A	chr12:122332535-122332814	HepG2	liver:	n/a	chr12:122332563-122332585
45	CTCF	chr12:122332676-122332811	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:122332700-122332850	GM12874	blood:	n/a	n/a
47	CTCF	chr12:122332620-122332770	HCM	heart:	n/a	n/a
48	CTCF	chr12:122332720-122332870	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr12:122332670-122332875	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:122332724-122332810	GM13977	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122331642..122333879-chr12:122334386..122336333,3	MCF-7	breast:
2	chr12:122232296..122232847-chr12:122332552..122333272,2	MCF-7	breast:
3	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
4	chr12:122331116..122333896-chr12:122352806..122354784,2	MCF-7	breast:
5	chr12:122325172..122329151-chr12:122329541..122333817,7	MCF-7	breast:
6	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
7	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
8	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
9	chr12:122214009..122214701-chr12:122332315..122333181,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD9	TF binding region
ENSG00000272849	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000188735	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10840637	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12827452	0.81[ASN][1000 genomes]
rs3741587	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122327400-122333000	Weak transcription	Aorta	Aorta
2	chr12:122327400-122340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122327600-122340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:122327800-122332800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:122327800-122337400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:122327800-122341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:122328200-122332800	Weak transcription	Fetal Lung	lung
8	chr12:122328200-122333000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:122328200-122333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:122328200-122335800	Weak transcription	Psoas Muscle	Psoas
11	chr12:122328200-122339200	Weak transcription	Right Atrium	heart
12	chr12:122328200-122340000	Weak transcription	Fetal Heart	heart
13	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
14	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
15	chr12:122328600-122332800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:122328600-122332800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:122328600-122333400	Weak transcription	Ovary	ovary
18	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:122329800-122344600	Strong transcription	Primary T cells from cord blood	blood
21	chr12:122329800-122355000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:122330200-122333000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:122330200-122334400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:122330600-122333200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:122330600-122333200	Genic enhancers	Fetal Thymus	thymus
27	chr12:122330600-122353800	Strong transcription	Fetal Muscle Leg	muscle
28	chr12:122330800-122332800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:122330800-122332800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:122330800-122332800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:122330800-122332800	Genic enhancers	NHEK	skin
32	chr12:122330800-122333000	Enhancers	HepG2	liver
33	chr12:122331000-122332800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:122331000-122332800	Genic enhancers	Duodenum Mucosa	Duodenum
35	chr12:122331000-122332800	Genic enhancers	Gastric	stomach
36	chr12:122331000-122332800	Enhancers	Stomach Mucosa	stomach
37	chr12:122331000-122332800	Genic enhancers	NHLF	lung
38	chr12:122331000-122333000	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr12:122331000-122333800	Strong transcription	Right Ventricle	heart
40	chr12:122331000-122355000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:122331200-122332800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:122331200-122332800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:122331200-122332800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:122331200-122332800	Enhancers	NH-A	brain
45	chr12:122331200-122333000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:122331400-122333000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:122331400-122333800	Strong transcription	Lung	lung
48	chr12:122331400-122334400	Strong transcription	Spleen	Spleen
49	chr12:122331600-122332800	Enhancers	Small Intestine	intestine
50	chr12:122331600-122333000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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