Variant report

Variant	rs7957424
Chromosome Location	chr12:120894318-120894319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120894070..120896271-chr12:120902567..120904195,2	MCF-7	breast:
2	chr12:120729376..120731044-chr12:120893599..120896434,2	K562	blood:
3	chr12:120881786..120887915-chr12:120889674..120896423,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111786	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10774558	0.80[CHB][hapmap]
rs11065140	0.96[YRI][hapmap]
rs11065157	0.80[CHB][hapmap]
rs1151845	0.80[CHB][hapmap]
rs11612519	0.86[YRI][hapmap]
rs11613214	0.96[YRI][hapmap]
rs1167699	0.80[CHB][hapmap]
rs1167706	0.80[CHB][hapmap]
rs12369178	0.80[CHB][hapmap]
rs16950293	0.96[YRI][hapmap]
rs1710142	0.80[CHB][hapmap]
rs1710146	0.80[CHB][hapmap]
rs2292680	0.80[CHB][hapmap]
rs2301456	0.80[CHB][hapmap]
rs3088345	0.80[CHB][hapmap]
rs3847971	0.80[CHB][hapmap]
rs4767899	0.80[CHB][hapmap]
rs542407	0.80[CHB][hapmap]
rs606443	0.80[CHB][hapmap]
rs667913	0.80[CHB][hapmap]
rs671566	0.80[CHB][hapmap]
rs7296473	0.81[YRI][hapmap]
rs787818	0.80[CHB][hapmap]
rs787830	0.80[CHB][hapmap]
rs7961895	0.80[AFR][1000 genomes]
rs7964008	0.86[YRI][hapmap]
rs7973555	0.93[YRI][hapmap]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7957424	KNTC1	cis	parietal	SCAN
rs7957424	COQ5	cis	cerebellum	SCAN
rs7957424	RNF10	Cis_1M	lymphoblastoid	RTeQTL
rs7957424	RNF10	cis	multi-tissue	Pritchard
rs7957424	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs7957424	GCN1L1	cis	cerebellum	SCAN
rs7957424	COQ5	cis	Esophagus Muscularis	GTEx
rs7957424	COQ5	cis	parietal	SCAN
rs7957424	GATC	cis	parietal	SCAN
rs7957424	SRRM4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120885400-120895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:120885400-120904400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:120885600-120894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:120885600-120896400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:120885600-120904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:120885600-120904000	Strong transcription	Fetal Stomach	stomach
9	chr12:120885800-120897800	Weak transcription	Fetal Heart	heart
10	chr12:120885800-120904200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:120885800-120904400	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:120885800-120904400	Weak transcription	Right Atrium	heart
13	chr12:120885800-120904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:120885800-120904600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:120886000-120894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:120886000-120897000	Weak transcription	Fetal Brain Male	brain
17	chr12:120886000-120904200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:120886200-120904800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:120886400-120897800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:120886600-120904200	Strong transcription	Fetal Thymus	thymus
21	chr12:120887000-120903400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:120887000-120904000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:120887000-120905000	Strong transcription	Thymus	Thymus
26	chr12:120887000-120905600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:120887200-120903200	Strong transcription	Dnd41	blood
28	chr12:120887200-120903400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:120887200-120904600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:120887400-120894400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:120888000-120904000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:120888600-120896800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:120888600-120905800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:120889600-120904400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:120889800-120904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:120890000-120903400	Strong transcription	A549	lung
37	chr12:120890000-120903600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:120890200-120904000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr12:120890200-120904000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:120890200-120904400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:120890400-120903400	Strong transcription	Fetal Lung	lung
42	chr12:120890400-120905800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:120890600-120905400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:120891000-120905800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:120891200-120904400	Strong transcription	K562	blood
46	chr12:120891200-120905600	Strong transcription	Placenta	Placenta
47	chr12:120891200-120905800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:120891400-120903600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:120891400-120904000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr12:120891600-120897600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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