Variant report

Variant	rs11902232
Chromosome Location	chr2:179106552-179106553
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	chr2:179078656..179081622-chr2:179106356..179108991,2	K562	blood:
2	chr2:179099293..179101307-chr2:179105250..179107076,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10174910	0.85[AFR][1000 genomes]
rs10205083	0.86[AFR][1000 genomes]
rs1111250	0.81[ASN][1000 genomes]
rs12693156	0.94[ASN][1000 genomes]
rs13387048	0.94[ASN][1000 genomes]
rs13398301	0.85[AFR][1000 genomes]
rs13425013	0.92[ASN][1000 genomes]
rs334045	0.80[AFR][1000 genomes]
rs34780417	0.81[ASN][1000 genomes]
rs34835220	0.81[ASN][1000 genomes]
rs35313685	0.81[ASN][1000 genomes]
rs6433715	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741744	0.81[ASN][1000 genomes]
rs6746200	0.81[ASN][1000 genomes]
rs919682	0.81[ASN][1000 genomes]

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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
2	chr2:179098600-179106600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:179101000-179115400	Weak transcription	Gastric	stomach
4	chr2:179101400-179107000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:179101800-179106600	Weak transcription	Right Atrium	heart
6	chr2:179103200-179106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:179103200-179106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:179103200-179106600	Weak transcription	HSMM	muscle
9	chr2:179103200-179106600	Weak transcription	NHEK	skin
10	chr2:179103200-179106600	Weak transcription	NHLF	lung
11	chr2:179103400-179106600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:179103400-179106600	Weak transcription	Osteobl	bone
13	chr2:179103600-179106600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:179103600-179106600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:179103600-179106600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:179103600-179106600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:179103600-179106600	Weak transcription	A549	lung
18	chr2:179103600-179106600	Weak transcription	HMEC	breast
19	chr2:179103600-179106600	Weak transcription	K562	blood
20	chr2:179103600-179106600	Weak transcription	NH-A	brain
21	chr2:179103600-179106600	Weak transcription	NHDF-Ad	bronchial
22	chr2:179104000-179106600	Weak transcription	Liver	Liver
23	chr2:179104000-179106600	Weak transcription	Fetal Heart	heart
24	chr2:179104200-179106600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:179104200-179106600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:179104200-179107800	Weak transcription	Psoas Muscle	Psoas
27	chr2:179104200-179111000	Weak transcription	Left Ventricle	heart
28	chr2:179105400-179106600	Weak transcription	Pancreas	Pancrea
29	chr2:179105400-179120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:179106200-179106600	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:179106200-179109000	Enhancers	Fetal Muscle Leg	muscle
32	chr2:179106400-179107200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:179106400-179107400	Enhancers	Brain Hippocampus Middle	brain
34	chr2:179106400-179107600	Enhancers	Brain Anterior Caudate	brain
35	chr2:179106400-179107600	Enhancers	Hela-S3	cervix
36	chr2:179106400-179107800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:179106400-179108000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:179106400-179108400	Enhancers	Fetal Brain Male	brain

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