Variant report

Variant	rs60556433
Chromosome Location	chr12:48293959-48293960
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:48293184..48294886-chr12:48297131..48299471,2	K562	blood:
2	chr12:48293928..48294822-chr12:48455472..48456360,4	MCF-7	breast:
3	chr12:48263903..48264738-chr12:48293957..48294663,3	MCF-7	breast:
4	chr12:48293420..48296418-chr12:48372974..48374777,2	K562	blood:
5	chr12:48286982..48288519-chr12:48291804..48294615,2	K562	blood:
6	chr12:48293537..48295353-chr12:48342553..48343953,18	MCF-7	breast:
7	chr12:48292355..48294336-chr12:48414292..48417246,2	MCF-7	breast:
8	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
9	chr12:48254834..48256905-chr12:48293937..48296372,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10467100	1.00[EUR][1000 genomes]
rs11168264	1.00[EUR][1000 genomes]
rs11168288	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11168290	1.00[EUR][1000 genomes]
rs11168368	1.00[EUR][1000 genomes]
rs11574002	1.00[EUR][1000 genomes]
rs11574060	1.00[EUR][1000 genomes]
rs11830088	1.00[EUR][1000 genomes]
rs11833896	1.00[EUR][1000 genomes]
rs11835282	1.00[EUR][1000 genomes]
rs11835720	1.00[EUR][1000 genomes]
rs11836542	1.00[EUR][1000 genomes]
rs11838217	1.00[EUR][1000 genomes]
rs12297117	1.00[EUR][1000 genomes]
rs1793947	1.00[EUR][1000 genomes]
rs34116679	1.00[EUR][1000 genomes]
rs34120080	1.00[EUR][1000 genomes]
rs34698661	1.00[EUR][1000 genomes]
rs35445616	1.00[EUR][1000 genomes]
rs35902603	1.00[EUR][1000 genomes]
rs41272745	1.00[EUR][1000 genomes]
rs41272751	1.00[EUR][1000 genomes]
rs41272757	1.00[EUR][1000 genomes]
rs41272761	1.00[EUR][1000 genomes]
rs56265470	1.00[EUR][1000 genomes]
rs57550917	1.00[EUR][1000 genomes]
rs57783574	1.00[EUR][1000 genomes]
rs58279970	1.00[EUR][1000 genomes]
rs58573495	1.00[EUR][1000 genomes]
rs60894356	1.00[EUR][1000 genomes]
rs7316602	1.00[EUR][1000 genomes]
rs73297147	1.00[EUR][1000 genomes]
rs73297150	1.00[EUR][1000 genomes]
rs73297159	1.00[EUR][1000 genomes]
rs74085216	1.00[EUR][1000 genomes]
rs74085221	1.00[EUR][1000 genomes]
rs74086446	1.00[EUR][1000 genomes]
rs74088715	1.00[EUR][1000 genomes]
rs74088779	1.00[EUR][1000 genomes]
rs7954412	1.00[EUR][1000 genomes]
rs7967673	1.00[EUR][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:73 , 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	chr12:48285000-48294400	Weak transcription	Right Ventricle	heart
4	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
5	chr12:48287800-48294200	Weak transcription	NHDF-Ad	bronchial
6	chr12:48288400-48294200	Weak transcription	Fetal Thymus	thymus
7	chr12:48288400-48294400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:48290800-48294000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:48290800-48294400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:48290800-48294400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:48290800-48294400	Weak transcription	HSMM	muscle
12	chr12:48290800-48296400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:48290800-48297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:48291000-48294000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:48291000-48297000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:48291400-48294000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:48291400-48294000	Weak transcription	Placenta	Placenta
18	chr12:48291400-48294200	Weak transcription	Hela-S3	cervix
19	chr12:48291400-48294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:48291400-48294400	Weak transcription	Pancreas	Pancrea
21	chr12:48291400-48297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:48292400-48294200	Weak transcription	Osteobl	bone
23	chr12:48293000-48294000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:48293000-48296800	Enhancers	Fetal Intestine Large	intestine
25	chr12:48293000-48297200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:48293200-48294200	Genic enhancers	HMEC	breast
27	chr12:48293200-48294800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:48293200-48295800	Enhancers	Primary T cells from cord blood	blood
29	chr12:48293200-48297000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:48293200-48297400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:48293200-48297400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:48293200-48297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:48293200-48297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:48293400-48294200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:48293400-48294400	Genic enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:48293400-48294600	Genic enhancers	NHEK	skin
37	chr12:48293400-48294600	Strong transcription	NHLF	lung
38	chr12:48293400-48294800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:48293400-48295200	Genic enhancers	Fetal Intestine Small	intestine
40	chr12:48293400-48296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:48293400-48296400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:48293400-48297200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:48293400-48297400	Enhancers	Esophagus	oesophagus
44	chr12:48293400-48297600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:48293400-48297600	Enhancers	Lung	lung
46	chr12:48293400-48297800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr12:48293400-48297800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:48293400-48298200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr12:48293400-48298400	Enhancers	Gastric	stomach
50	chr12:48293400-48298400	Enhancers	Stomach Mucosa	stomach

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