Variant report

Variant	rs11164950
Chromosome Location	chr1:94028313-94028314
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	chr1:94027127..94030610-chr1:94031314..94034192,3	K562	blood:
2	chr1:94023803..94025307-chr1:94028018..94030446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1863500	1.00[EUR][1000 genomes]
rs236325	1.00[EUR][1000 genomes]
rs236327	1.00[EUR][1000 genomes]
rs236328	1.00[EUR][1000 genomes]
rs236334	1.00[EUR][1000 genomes]
rs237424	1.00[EUR][1000 genomes]
rs237426	1.00[EUR][1000 genomes]
rs237427	1.00[EUR][1000 genomes]
rs237428	1.00[EUR][1000 genomes]
rs237429	1.00[EUR][1000 genomes]
rs237430	1.00[EUR][1000 genomes]
rs2449377	1.00[EUR][1000 genomes]
rs2493642	1.00[EUR][1000 genomes]
rs2818968	1.00[EUR][1000 genomes]
rs57438388	1.00[EUR][1000 genomes]
rs57974365	1.00[EUR][1000 genomes]
rs58430978	1.00[EUR][1000 genomes]
rs59039419	1.00[EUR][1000 genomes]
rs60515224	1.00[EUR][1000 genomes]
rs60717381	1.00[EUR][1000 genomes]
rs72961357	1.00[EUR][1000 genomes]
rs72961366	1.00[EUR][1000 genomes]
rs72961373	1.00[EUR][1000 genomes]
rs72961379	1.00[EUR][1000 genomes]
rs72961386	1.00[EUR][1000 genomes]
rs72961389	1.00[EUR][1000 genomes]
rs7547495	1.00[EUR][1000 genomes]
rs7553492	1.00[EUR][1000 genomes]
rs7554661	1.00[EUR][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	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
2	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:94016800-94031600	Weak transcription	Fetal Stomach	stomach
4	chr1:94018400-94031600	Weak transcription	Spleen	Spleen
5	chr1:94018600-94031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:94018600-94037400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:94019000-94031800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:94019000-94032000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:94019200-94031200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:94019200-94037400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:94020200-94034200	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:94020800-94033200	Weak transcription	Psoas Muscle	Psoas
13	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
14	chr1:94021000-94028400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:94021000-94028800	Weak transcription	HSMMtube	muscle
16	chr1:94021000-94031600	Weak transcription	Colonic Mucosa	Colon
17	chr1:94021000-94031600	Weak transcription	K562	blood
18	chr1:94021000-94031800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:94021000-94032600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:94021000-94041200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:94021400-94030200	Weak transcription	Primary T cells from cord blood	blood
22	chr1:94022200-94030200	Weak transcription	Stomach Mucosa	stomach
23	chr1:94022200-94031000	Weak transcription	Gastric	stomach
24	chr1:94022200-94031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:94022200-94044200	Weak transcription	Small Intestine	intestine
26	chr1:94023000-94031000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:94023600-94028800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:94023600-94031400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:94024000-94044200	Strong transcription	HSMM	muscle
30	chr1:94024200-94029200	Strong transcription	NH-A	brain
31	chr1:94024200-94031000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:94024200-94031800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr1:94024200-94032800	Strong transcription	A549	lung
34	chr1:94024400-94030800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:94024400-94040200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:94024600-94029200	Strong transcription	Osteobl	bone
37	chr1:94024600-94031000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:94024600-94031000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:94024600-94033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:94024800-94029400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:94024800-94031600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:94024800-94032800	Strong transcription	HMEC	breast
43	chr1:94025000-94028600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:94025000-94029200	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr1:94025000-94032800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:94025000-94032800	Strong transcription	NHEK	skin
47	chr1:94025000-94037600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:94025000-94043400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:94025200-94029000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:94025200-94029200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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