Variant report

Variant	rs7972225
Chromosome Location	chr12:26276758-26276759
allele	A/G
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	POLR2A	chr12:26275158-26277024	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr12:26276625-26277142	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr12:26275859-26277017	U87	brain:	n/a	n/a
4	POLR2A	chr12:26275552-26276972	U87	brain:	n/a	n/a
5	MAX	chr12:26274729-26276830	NB4	blood:	n/a	chr12:26276172-26276188 chr12:26276177-26276192 chr12:26276183-26276192 chr12:26276176-26276195
6	SIN3AK20	chr12:26274664-26277000	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr12:26275552-26277019	U87	brain:	n/a	n/a
8	SUZ12	chr12:26274316-26278522	NT2-D1	testis:	n/a	n/a
9	MYC	chr12:26276686-26277093	MCF10A-Er-Src	breast:	n/a	n/a
10	ZNF263	chr12:26274846-26277069	HEK293-T-REx	kidney:	n/a	n/a
11	RAD21	chr12:26275586-26278060	SK-N-SH	brain:	n/a	chr12:26276507-26276520
12	POLR2A	chr12:26275474-26276973	IMR90	lung:	n/a	n/a
13	TCF12	chr12:26275661-26277174	SK-N-SH	brain:	n/a	chr12:26276761-26276770 chr12:26276276-26276283
14	POLR2A	chr12:26275569-26280099	PANC-1	pancreas:	n/a	n/a
15	TCF12	chr12:26275596-26276783	A549	lung:	n/a	chr12:26276761-26276770 chr12:26276276-26276283
16	POLR2A	chr12:26274089-26279927	PANC-1	pancreas:	n/a	n/a
17	TCF7L2	chr12:26275033-26276888	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:26274388..26277209-chr12:26277264..26280315,5	K562	blood:
2	chr12:26275273..26277209-chr12:26278660..26280315,2	K562	blood:
3	chr12:26274883..26277038-chr12:26421953..26424842,3	MCF-7	breast:

Variant related genes	Relation type
BHLHE41	TF binding region
ENSG00000256894	Chromatin interaction
ENSG00000123095	Chromatin interaction
ENSG00000255750	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10082878	1.00[MEX][hapmap]
rs706537	1.00[MEX][hapmap]

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	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3407309	chr12:26274110-26277058	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3381594	chr12:26274535-26276833	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26272200-26280000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:26272800-26276800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:26273000-26280000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:26273400-26280000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:26273400-26280000	Active TSS	Right Atrium	heart
6	chr12:26273600-26279800	Active TSS	Psoas Muscle	Psoas
7	chr12:26273600-26280000	Active TSS	Brain Substantia Nigra	brain
8	chr12:26274000-26280000	Active TSS	Brain Angular Gyrus	brain
9	chr12:26274200-26279600	Active TSS	Colon Smooth Muscle	Colon
10	chr12:26274400-26279800	Active TSS	NHDF-Ad	bronchial
11	chr12:26274400-26280200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:26274600-26280000	Active TSS	Aorta	Aorta
13	chr12:26274600-26280000	Active TSS	Right Ventricle	heart
14	chr12:26274600-26280000	Active TSS	HSMM	muscle
15	chr12:26274800-26277000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
16	chr12:26274800-26277200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr12:26274800-26279800	Active TSS	Left Ventricle	heart
18	chr12:26274800-26280000	Active TSS	Ovary	ovary
19	chr12:26275000-26279800	Active TSS	Brain Anterior Caudate	brain
20	chr12:26275000-26279800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
21	chr12:26275000-26280000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:26275000-26280000	Active TSS	Brain Cingulate Gyrus	brain
23	chr12:26275000-26280400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:26275600-26276800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
25	chr12:26275600-26278800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:26275800-26276800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr12:26275800-26276800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
28	chr12:26275800-26276800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr12:26275800-26276800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr12:26275800-26276800	Flanking Active TSS	HMEC	breast
31	chr12:26275800-26277000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr12:26275800-26277000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr12:26276000-26276800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr12:26276000-26276800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr12:26276000-26277000	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr12:26276000-26277000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:26276000-26277000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr12:26276000-26277000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
39	chr12:26276000-26277600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
40	chr12:26276000-26278000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr12:26276000-26278000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
42	chr12:26276200-26276800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
43	chr12:26276200-26277000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:26276200-26277000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:26276200-26277000	Flanking Active TSS	NH-A	brain
46	chr12:26276200-26277200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:26276200-26277200	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr12:26276200-26277400	Bivalent Enhancer	Liver	Liver
49	chr12:26276200-26277400	Active TSS	Colonic Mucosa	Colon
50	chr12:26276200-26277600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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