Variant report

Variant	rs12304002
Chromosome Location	chr12:26170364-26170365
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	RAD21	chr12:26170342-26171066	HCT-116	colon:	n/a	n/a
2	RAD21	chr12:26170340-26170928	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:26170235-26171042	A549	lung:	n/a	n/a
4	RAD21	chr12:26170348-26171015	A549	lung:	n/a	n/a
5	CTCF	chr12:26170144-26171110	SK-N-SH	brain:	n/a	n/a
6	SMC3	chr12:26170296-26170957	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr12:26170357-26171097	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10505987	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10842654	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11834328	0.81[EUR][1000 genomes]
rs11836294	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11836838	1.00[JPT][hapmap]
rs12317401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929800	0.82[JPT][hapmap]
rs16929807	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16929810	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16929857	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs16929901	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs16929935	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16929938	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16929948	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16929953	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16930044	1.00[JPT][hapmap]
rs1986803	0.81[EUR][1000 genomes]
rs3741545	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3803008	0.90[AFR][1000 genomes]
rs73079021	0.80[AFR][1000 genomes]
rs7310724	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7315080	0.82[JPT][hapmap]
rs7972830	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs931583	0.82[JPT][hapmap]
rs9804876	1.00[YRI][hapmap];0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26160600-26170400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:26160600-26170600	Weak transcription	Fetal Intestine Small	intestine
3	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:26163600-26170400	Weak transcription	Pancreas	Pancrea
5	chr12:26164200-26170400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:26164400-26170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:26164600-26170400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:26164600-26171600	Weak transcription	NH-A	brain
9	chr12:26164800-26170400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:26164800-26170400	Weak transcription	Adipose Nuclei	Adipose
11	chr12:26164800-26170400	Weak transcription	Aorta	Aorta
12	chr12:26164800-26170400	Weak transcription	Left Ventricle	heart
13	chr12:26164800-26170400	Weak transcription	Lung	lung
14	chr12:26164800-26170400	Weak transcription	Ovary	ovary
15	chr12:26164800-26170400	Weak transcription	Psoas Muscle	Psoas
16	chr12:26164800-26170400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:26164800-26170400	Weak transcription	Hela-S3	cervix
18	chr12:26164800-26170400	Weak transcription	HSMM	muscle
19	chr12:26164800-26170400	Weak transcription	NHEK	skin
20	chr12:26164800-26170600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:26164800-26173200	Weak transcription	HMEC	breast
22	chr12:26165000-26171600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:26165200-26171400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:26166200-26170400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:26167200-26170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:26167200-26170400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:26167200-26170400	Weak transcription	Brain Substantia Nigra	brain
28	chr12:26167200-26170400	Weak transcription	Gastric	stomach
29	chr12:26167200-26170400	Weak transcription	Right Atrium	heart
30	chr12:26167200-26174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:26167400-26170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:26167400-26170400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:26167400-26170400	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:26167400-26170400	Weak transcription	Fetal Heart	heart
35	chr12:26167400-26170400	Weak transcription	Right Ventricle	heart
36	chr12:26167400-26170400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:26167400-26170400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:26167400-26171600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:26167400-26180600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:26168200-26171000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:26168200-26171000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:26168400-26170400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:26168400-26170400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:26168600-26170400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:26168800-26170400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:26168800-26172600	Enhancers	NHDF-Ad	bronchial
47	chr12:26169000-26170400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:26169000-26171800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:26169200-26170400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:26169200-26170800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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