Variant report

Variant	rs7953315
Chromosome Location	chr12:26120296-26120297
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:26113833..26115366-chr12:26119637..26121899,2	K562	blood:
2	chr12:26111412..26115023-chr12:26116224..26121847,6	MCF-7	breast:
3	chr12:26118560..26120578-chr12:26158063..26160123,2	K562	blood:
4	chr12:26119397..26121989-chr12:26127514..26129240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7358598	1.00[JPT][hapmap]
rs7968101	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26112800-26120600	Weak transcription	Pancreas	Pancrea
2	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:26113400-26121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:26113400-26128800	Weak transcription	HSMM	muscle
8	chr12:26113800-26120600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:26113800-26122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:26113800-26122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:26113800-26124000	Weak transcription	Fetal Intestine Large	intestine
12	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
14	chr12:26114200-26125600	Weak transcription	HMEC	breast
15	chr12:26114400-26123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:26114600-26122200	Weak transcription	NH-A	brain
17	chr12:26114600-26122400	Weak transcription	Osteobl	bone
18	chr12:26114800-26123600	Weak transcription	Fetal Lung	lung
19	chr12:26115000-26122600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
21	chr12:26116600-26124600	Weak transcription	NHLF	lung
22	chr12:26116800-26120400	Weak transcription	Aorta	Aorta
23	chr12:26116800-26120800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:26116800-26122600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:26116800-26123400	Weak transcription	Adipose Nuclei	Adipose
26	chr12:26117000-26120400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:26117000-26120600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:26117000-26120600	Weak transcription	Left Ventricle	heart
29	chr12:26117000-26120600	Weak transcription	Psoas Muscle	Psoas
30	chr12:26117000-26120600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:26117000-26121000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:26117000-26121800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:26117000-26121800	Weak transcription	Lung	lung
34	chr12:26117000-26121800	Weak transcription	Right Atrium	heart
35	chr12:26117000-26122000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:26117000-26122800	Weak transcription	Spleen	Spleen
37	chr12:26117000-26123400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:26117200-26120400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:26117200-26120600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:26117200-26121600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:26117200-26121800	Weak transcription	Brain Angular Gyrus	brain
43	chr12:26117200-26122000	Weak transcription	NHDF-Ad	bronchial
44	chr12:26117200-26122400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:26117200-26124000	Weak transcription	Fetal Stomach	stomach
46	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
47	chr12:26117400-26121000	Weak transcription	HUVEC	blood vessel
48	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
50	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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