Variant report

Variant	rs7302235
Chromosome Location	chr12:48292838-48292839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48290491..48293041-chr12:48295549..48298546,2	K562	blood:
2	chr12:48100387..48103087-chr12:48291910..48293474,2	K562	blood:
3	chr12:48286982..48288519-chr12:48291804..48294615,2	K562	blood:
4	chr12:48292355..48294336-chr12:48414292..48417246,2	MCF-7	breast:
5	chr12:48290408..48293041-chr12:48297046..48299548,2	K562	blood:
6	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
7	chr12:48291415..48293817-chr12:48302480..48304953,2	K562	blood:
8	chr12:48275808..48279241-chr12:48289701..48292844,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205537	Chromatin interaction
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10747525	0.94[ASN][1000 genomes]
rs10875695	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875697	0.84[ASN][1000 genomes]
rs10875700	0.84[ASN][1000 genomes]
rs10875701	0.83[ASN][1000 genomes]
rs10875702	0.83[ASN][1000 genomes]
rs11568820	0.89[ASN][1000 genomes]
rs11829292	0.82[ASN][1000 genomes]
rs4237855	0.84[ASN][1000 genomes]
rs4254129	0.83[ASN][1000 genomes]
rs4334089	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4341603	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4402365	0.84[ASN][1000 genomes]
rs4442605	0.83[ASN][1000 genomes]
rs4454781	0.83[ASN][1000 genomes]
rs7136534	0.94[CEU][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7305180	0.83[ASN][1000 genomes]
rs7965397	0.90[ASN][1000 genomes]
rs7976091	0.87[ASN][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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:48283400-48293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:48285000-48294400	Weak transcription	Right Ventricle	heart
5	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
6	chr12:48287000-48293200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:48287800-48293400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:48287800-48294200	Weak transcription	NHDF-Ad	bronchial
9	chr12:48288400-48293000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:48288400-48293400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:48288400-48294200	Weak transcription	Fetal Thymus	thymus
12	chr12:48288400-48294400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:48289800-48293800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:48290200-48293600	Weak transcription	Primary B cells from cord blood	blood
15	chr12:48290400-48293400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:48290600-48293000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:48290800-48293200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:48290800-48293200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:48290800-48293200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:48290800-48293200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:48290800-48293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:48290800-48293600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:48290800-48293800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:48290800-48294000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:48290800-48294400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:48290800-48294400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:48290800-48294400	Weak transcription	HSMM	muscle
28	chr12:48290800-48296400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:48290800-48297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:48291000-48293400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:48291000-48293400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:48291000-48294000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:48291000-48297000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:48291200-48293600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:48291200-48293600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:48291400-48293000	Weak transcription	Fetal Intestine Large	intestine
37	chr12:48291400-48293200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:48291400-48293400	Weak transcription	Esophagus	oesophagus
39	chr12:48291400-48293400	Weak transcription	Gastric	stomach
40	chr12:48291400-48293400	Weak transcription	Lung	lung
41	chr12:48291400-48293400	Weak transcription	Stomach Mucosa	stomach
42	chr12:48291400-48293400	Weak transcription	NHLF	lung
43	chr12:48291400-48293800	Weak transcription	Liver	Liver
44	chr12:48291400-48294000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:48291400-48294000	Weak transcription	Placenta	Placenta
46	chr12:48291400-48294200	Weak transcription	Hela-S3	cervix
47	chr12:48291400-48294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:48291400-48294400	Weak transcription	Pancreas	Pancrea
49	chr12:48291400-48297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:48291600-48293000	Weak transcription	Fetal Intestine Small	intestine

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