Variant report

Variant	rs970095
Chromosome Location	chr12:120032706-120032707
allele	C/T
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	SIN3A	chr12:120032536-120033154	H1-hESC	embryonic stem cell:	n/a	chr12:120032982-120032995 chr12:120032752-120032765
2	CTBP2	chr12:120031201-120033277	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:120032501-120034200	U87	brain:	n/a	n/a
4	MAX	chr12:120032641-120033049	SK-N-SH	brain:	n/a	chr12:120032997-120033007
5	SUZ12	chr12:120030839-120033481	NT2-D1	testis:	n/a	n/a
6	POLR2A	chr12:120031120-120033303	U87	brain:	n/a	n/a
7	POLR2A	chr12:120032336-120034342	U87	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000248636	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2519537	0.86[ASN][1000 genomes]
rs2711748	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7301592	0.80[GIH][hapmap];0.86[MEX][hapmap]
rs7312321	0.80[GIH][hapmap];0.86[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	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs970095	WSB2	cis	cerebellum	SCAN
rs970095	PXN	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120030800-120034800	Active TSS	HSMM	muscle
2	chr12:120031000-120033200	Active TSS	HSMMtube	muscle
3	chr12:120031000-120033400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr12:120031000-120034400	Active TSS	Psoas Muscle	Psoas
5	chr12:120031200-120032800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:120031200-120033200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:120031200-120033200	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr12:120031200-120033400	Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:120031200-120033400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr12:120031200-120033600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:120031200-120034200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:120031400-120032800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:120031400-120032800	Bivalent/Poised TSS	Osteobl	bone
14	chr12:120031400-120033000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr12:120031400-120033200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:120031400-120033200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:120031400-120033200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
18	chr12:120031400-120033200	Bivalent Enhancer	Fetal Brain Male	brain
19	chr12:120031400-120033200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
20	chr12:120031400-120033200	Active TSS	Ovary	ovary
21	chr12:120031400-120033600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:120031400-120034200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:120031400-120034600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:120031600-120032800	Active TSS	Left Ventricle	heart
25	chr12:120031600-120033000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr12:120031600-120033000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
27	chr12:120031600-120033000	Active TSS	Gastric	stomach
28	chr12:120031600-120033200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:120031600-120033200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
30	chr12:120031600-120033200	Bivalent/Poised TSS	Right Ventricle	heart
31	chr12:120031600-120033400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:120031600-120033400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr12:120031600-120033400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
34	chr12:120031600-120033400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:120031600-120033400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
36	chr12:120031600-120033600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
37	chr12:120031800-120033200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
38	chr12:120031800-120033400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr12:120031800-120033400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:120031800-120033400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:120031800-120033400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr12:120031800-120033400	Bivalent/Poised TSS	Fetal Thymus	thymus
43	chr12:120031800-120033600	Bivalent/Poised TSS	NH-A	brain
44	chr12:120032000-120032800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr12:120032000-120032800	Active TSS	Esophagus	oesophagus
46	chr12:120032000-120033000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr12:120032000-120033200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr12:120032000-120033200	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr12:120032000-120033600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr12:120032000-120034000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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