Variant report

Variant	rs12245255
Chromosome Location	chr10:50315080-50315081
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50314500..50318570-chr10:50326499..50328270,3	K562	blood:
2	chr10:50314896..50317280-chr10:50385638..50388577,2	K562	blood:

Variant related genes	Relation type
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11100984	0.92[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12246766	0.93[ASN][1000 genomes]
rs12777282	0.82[CHB][hapmap]
rs13088	1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[ASN][1000 genomes]
rs2804930	0.80[CEU][hapmap]
rs2804931	0.80[CEU][hapmap]
rs34589684	0.91[EUR][1000 genomes]
rs4240498	0.91[CEU][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4240499	0.84[ASN][1000 genomes]
rs4265516	0.84[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4298825	0.92[CHB][hapmap];0.96[CHD][hapmap]
rs4421675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4488117	0.92[CHB][hapmap];0.96[CHD][hapmap]
rs4509682	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs4558089	0.84[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4617506	0.87[EUR][1000 genomes]
rs6537494	0.91[CEU][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6537497	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs7069758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7074818	0.91[CEU][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7079570	0.84[ASW][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50290800-50315400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:50304800-50317600	Weak transcription	Fetal Heart	heart
3	chr10:50311800-50317800	Weak transcription	Fetal Intestine Large	intestine
4	chr10:50312200-50320400	Enhancers	Colon Smooth Muscle	Colon
5	chr10:50312400-50315600	Enhancers	Brain Germinal Matrix	brain
6	chr10:50312400-50316200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr10:50312600-50316400	Weak transcription	K562	blood
8	chr10:50312600-50317000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:50312600-50322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:50313600-50315800	Enhancers	Brain Substantia Nigra	brain
11	chr10:50314200-50315200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:50314200-50315200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr10:50314200-50315400	Enhancers	Rectal Smooth Muscle	rectum
14	chr10:50314200-50315800	Enhancers	Brain Cingulate Gyrus	brain
15	chr10:50314200-50315800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr10:50314400-50315200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:50314400-50315200	Enhancers	Adipose Nuclei	Adipose
18	chr10:50314400-50315200	Enhancers	Ovary	ovary
19	chr10:50314400-50315200	Enhancers	Small Intestine	intestine
20	chr10:50314400-50315400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr10:50314400-50315400	Enhancers	Left Ventricle	heart
22	chr10:50314400-50315600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:50314400-50315600	Enhancers	Brain Hippocampus Middle	brain
24	chr10:50314400-50315600	Enhancers	NHDF-Ad	bronchial
25	chr10:50314400-50315600	Genic enhancers	NHLF	lung
26	chr10:50314400-50315800	Enhancers	HSMMtube	muscle
27	chr10:50314400-50316000	Enhancers	Brain Angular Gyrus	brain
28	chr10:50314400-50316200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr10:50314400-50316200	Enhancers	Brain Anterior Caudate	brain
30	chr10:50314400-50321400	Genic enhancers	Fetal Stomach	stomach
31	chr10:50314600-50315200	Enhancers	Esophagus	oesophagus
32	chr10:50314600-50315200	Enhancers	Fetal Brain Female	brain
33	chr10:50314600-50315400	Enhancers	Pancreas	Pancrea
34	chr10:50314600-50315600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:50314600-50315600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr10:50314600-50315600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr10:50314600-50315600	Enhancers	Spleen	Spleen
38	chr10:50314600-50316000	Genic enhancers	Right Ventricle	heart
39	chr10:50314600-50316600	Enhancers	Fetal Thymus	thymus
40	chr10:50314600-50318000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr10:50314600-50318000	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr10:50314600-50318000	Enhancers	Placenta	Placenta
43	chr10:50314600-50319800	Enhancers	Lung	lung
44	chr10:50314600-50320200	Enhancers	Right Atrium	heart
45	chr10:50314600-50321000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr10:50314800-50315800	Genic enhancers	Fetal Lung	lung
47	chr10:50314800-50316200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:50315000-50315200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:50315000-50315200	Enhancers	Fetal Brain Male	brain
50	chr10:50315000-50315400	Enhancers	Aorta	Aorta

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