Variant report

Variant	rs1921793
Chromosome Location	chr2:206167743-206167744
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	chr2:206156190..206158934-chr2:206165789..206167906,3	K562	blood:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10199814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11690400	0.83[AFR][1000 genomes]
rs13394469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13400802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16837173	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16837202	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921792	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921804	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4119080	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57128422	1.00[EUR][1000 genomes]
rs58345531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59179287	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59554665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59827121	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60989157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61131067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718851	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206154200-206168200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:206157000-206170400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:206157000-206170800	Weak transcription	Aorta	Aorta
5	chr2:206157400-206169400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:206157400-206170800	Weak transcription	Pancreas	Pancrea
7	chr2:206160000-206169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:206160200-206169800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:206161200-206168800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:206161200-206177000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:206163800-206177200	Weak transcription	Fetal Lung	lung
12	chr2:206164400-206169800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:206164600-206168600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:206165200-206171000	Weak transcription	Left Ventricle	heart
15	chr2:206165600-206177200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:206165800-206167800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:206165800-206168600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:206165800-206168600	Weak transcription	Right Ventricle	heart
19	chr2:206166000-206168600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr2:206166000-206169200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:206166200-206168600	Weak transcription	Brain Anterior Caudate	brain
22	chr2:206166200-206170000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:206166400-206168200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:206166600-206171600	Weak transcription	Liver	Liver
25	chr2:206167000-206168400	Strong transcription	Fetal Stomach	stomach
26	chr2:206167000-206168600	Strong transcription	Ovary	ovary
27	chr2:206167200-206168600	Strong transcription	Fetal Intestine Large	intestine
28	chr2:206167400-206168800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:206167400-206168800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:206167400-206169600	Strong transcription	Adipose Nuclei	Adipose
31	chr2:206167600-206172400	Weak transcription	Fetal Muscle Trunk	muscle

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