Variant report

Variant	rs10179074
Chromosome Location	chr2:179253558-179253559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179252767..179254313-chr2:179277044..179279499,2	K562	blood:

Variant related genes	Relation type
ENSG00000223960	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10173900	1.00[AMR][1000 genomes]
rs10185798	1.00[AMR][1000 genomes]
rs13388614	1.00[AMR][1000 genomes]
rs13388666	1.00[AMR][1000 genomes]
rs13392094	1.00[AMR][1000 genomes]
rs13407421	1.00[AMR][1000 genomes]
rs13411319	1.00[AMR][1000 genomes]
rs13418251	1.00[AMR][1000 genomes]
rs13427914	1.00[AMR][1000 genomes]
rs13431100	1.00[AMR][1000 genomes]
rs28371011	1.00[AMR][1000 genomes]
rs6705110	1.00[AMR][1000 genomes]
rs6723632	1.00[AMR][1000 genomes]
rs6734167	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:179201800-179268200	Weak transcription	HSMM	muscle
3	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
4	chr2:179225000-179257800	Weak transcription	Lung	lung
5	chr2:179226600-179257200	Weak transcription	Gastric	stomach
6	chr2:179232000-179254200	Weak transcription	Hela-S3	cervix
7	chr2:179240000-179258200	Weak transcription	NHEK	skin
8	chr2:179240200-179256800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:179240800-179253800	Weak transcription	Right Ventricle	heart
10	chr2:179241800-179262600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:179242200-179254600	Weak transcription	Ovary	ovary
12	chr2:179242200-179258600	Weak transcription	Brain Germinal Matrix	brain
13	chr2:179246000-179256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:179246600-179257200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:179247000-179254600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:179247200-179253600	Strong transcription	Liver	Liver
17	chr2:179247800-179254600	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr2:179248000-179255000	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:179248200-179257200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:179248600-179254400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:179249000-179254600	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:179249000-179262600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:179249000-179269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:179249400-179255000	Weak transcription	Fetal Brain Male	brain
25	chr2:179249400-179259400	Weak transcription	Left Ventricle	heart
26	chr2:179249600-179254000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:179249600-179255000	Weak transcription	Psoas Muscle	Psoas
28	chr2:179249600-179259800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:179249600-179264000	Weak transcription	Aorta	Aorta
30	chr2:179249800-179254800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:179250800-179253600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:179250800-179254400	Weak transcription	HSMMtube	muscle
33	chr2:179250800-179255000	Weak transcription	Brain Angular Gyrus	brain
34	chr2:179250800-179266000	Weak transcription	K562	blood
35	chr2:179251000-179268600	Weak transcription	NH-A	brain
36	chr2:179252000-179261000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:179252200-179257000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:179252200-179257000	Weak transcription	Osteobl	bone
39	chr2:179252200-179264200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:179252400-179254800	Weak transcription	Adipose Nuclei	Adipose
41	chr2:179252400-179259000	Weak transcription	Fetal Intestine Small	intestine
42	chr2:179252400-179262000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:179252600-179255400	Strong transcription	Fetal Brain Female	brain
44	chr2:179252600-179256000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:179253000-179255800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:179253000-179256200	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:179253200-179253800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:179253200-179256200	Strong transcription	HMEC	breast
49	chr2:179253200-179269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:179253400-179253600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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