Variant report

Variant	rs17125340
Chromosome Location	chr12:51470572-51470573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51441202..51443113-chr12:51468336..51471322,2	K562	blood:
2	chr12:51470174..51472582-chr12:51632362..51634494,2	K562	blood:
3	chr12:51468579..51474515-chr12:51475298..51478642,16	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10876131	0.82[CHB][hapmap]
rs10876136	0.82[JPT][hapmap]
rs11169710	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12424509	0.82[CHB][hapmap]
rs1632791	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs17125111	1.00[AFR][1000 genomes]
rs370462	0.82[CHB][hapmap]
rs4438107	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs6580782	0.82[CHB][hapmap]
rs6580785	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6580788	0.82[CHB][hapmap];0.85[JPT][hapmap]

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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51445400-51470600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:51445600-51470600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:51453400-51470600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:51454000-51475400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:51454200-51475600	Weak transcription	Stomach Mucosa	stomach
7	chr12:51455400-51470800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:51459000-51471400	Weak transcription	Fetal Heart	heart
9	chr12:51459000-51475600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:51459800-51475800	Weak transcription	GM12878-XiMat	blood
11	chr12:51461800-51475200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:51462000-51475800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:51462000-51475800	Weak transcription	Pancreas	Pancrea
14	chr12:51462000-51476400	Weak transcription	Gastric	stomach
15	chr12:51462600-51474400	Weak transcription	Fetal Kidney	kidney
16	chr12:51463800-51470600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:51464200-51470800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:51464400-51475800	Weak transcription	HMEC	breast
19	chr12:51464800-51475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:51465800-51471400	Weak transcription	Fetal Brain Male	brain
21	chr12:51465800-51471800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:51466000-51470600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:51466000-51471400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:51466000-51471800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:51466000-51475400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:51466000-51475400	Weak transcription	A549	lung
27	chr12:51466200-51471600	Weak transcription	NHDF-Ad	bronchial
28	chr12:51466400-51475600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:51466800-51475800	Weak transcription	Hela-S3	cervix
30	chr12:51467200-51475600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:51467200-51475800	Weak transcription	Primary B cells from cord blood	blood
32	chr12:51467400-51476200	Weak transcription	Colonic Mucosa	Colon
33	chr12:51467800-51471000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:51467800-51471400	Weak transcription	HepG2	liver
35	chr12:51467800-51471600	Weak transcription	Ovary	ovary
36	chr12:51467800-51471600	Weak transcription	NH-A	brain
37	chr12:51467800-51471800	Weak transcription	Aorta	Aorta
38	chr12:51467800-51473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:51467800-51475200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:51467800-51475200	Weak transcription	HUVEC	blood vessel
41	chr12:51467800-51475400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:51467800-51475400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:51467800-51475800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:51467800-51475800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:51467800-51475800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:51467800-51475800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:51467800-51475800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:51467800-51475800	Weak transcription	Liver	Liver
49	chr12:51468000-51471400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:51468000-51471400	Weak transcription	Fetal Brain Female	brain

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