Variant report

Variant	rs6742192
Chromosome Location	chr2:47077566-47077567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47072263..47075274-chr2:47076219..47078746,3	K562	blood:
2	chr2:47070844..47074543-chr2:47075067..47077968,4	K562	blood:

Variant related genes	Relation type
ENSG00000239332	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10171029	0.82[CEU][hapmap]
rs11691225	0.82[CEU][hapmap]
rs12988029	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6749716	1.00[JPT][hapmap]
rs8622	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47069400-47082400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:47072000-47078400	Enhancers	Lung	lung
3	chr2:47072000-47078400	Enhancers	Right Ventricle	heart
4	chr2:47072000-47078600	Enhancers	Fetal Stomach	stomach
5	chr2:47072000-47078600	Enhancers	Ovary	ovary
6	chr2:47072200-47078400	Enhancers	Left Ventricle	heart
7	chr2:47072200-47078600	Enhancers	Pancreas	Pancrea
8	chr2:47072200-47078800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:47072400-47078600	Enhancers	Fetal Intestine Small	intestine
10	chr2:47072600-47077600	Enhancers	Brain Hippocampus Middle	brain
11	chr2:47072600-47078000	Enhancers	Small Intestine	intestine
12	chr2:47072600-47078400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:47072600-47078400	Enhancers	Fetal Heart	heart
14	chr2:47072600-47078800	Enhancers	HUVEC	blood vessel
15	chr2:47072600-47080400	Enhancers	HMEC	breast
16	chr2:47072800-47078000	Enhancers	Fetal Intestine Large	intestine
17	chr2:47072800-47078600	Enhancers	Right Atrium	heart
18	chr2:47072800-47078600	Enhancers	NHDF-Ad	bronchial
19	chr2:47072800-47080200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:47072800-47080400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:47073000-47078200	Enhancers	Adipose Nuclei	Adipose
22	chr2:47073000-47078200	Enhancers	Fetal Kidney	kidney
23	chr2:47073400-47077600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:47073400-47078000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:47073400-47078600	Enhancers	Stomach Mucosa	stomach
26	chr2:47073400-47078600	Enhancers	Osteobl	bone
27	chr2:47073600-47077800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:47073600-47078000	Enhancers	Esophagus	oesophagus
29	chr2:47073600-47078600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:47073600-47078800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:47073800-47078000	Enhancers	Fetal Thymus	thymus
32	chr2:47073800-47078400	Enhancers	Psoas Muscle	Psoas
33	chr2:47073800-47078400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr2:47073800-47078600	Enhancers	NHEK	skin
35	chr2:47074000-47078600	Enhancers	HSMM	muscle
36	chr2:47074000-47079600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:47075000-47078000	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:47075000-47078600	Enhancers	Gastric	stomach
39	chr2:47075200-47077600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:47075200-47078000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:47075200-47080400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:47075200-47084400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:47075400-47078800	Enhancers	Hela-S3	cervix
44	chr2:47075600-47078000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:47075800-47077600	Weak transcription	HSMMtube	muscle
46	chr2:47075800-47078200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:47076000-47078400	Enhancers	Colonic Mucosa	Colon
48	chr2:47076000-47078600	Enhancers	Fetal Muscle Trunk	muscle
49	chr2:47076600-47081600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:47076800-47081600	Weak transcription	Brain Anterior Caudate	brain

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