Variant report

Variant	rs1649923
Chromosome Location	chr2:231361657-231361658
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	chr2:231356731..231359300-chr2:231361118..231363948,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11687978	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1615764	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1649895	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678152	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678157	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678158	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678175	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678184	0.90[ASN][1000 genomes]
rs1678186	0.85[ASN][1000 genomes]
rs1678188	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1678196	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678197	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678208	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2559092	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972956	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4973329	0.90[ASN][1000 genomes]
rs55736462	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62193429	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62193432	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6711920	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6712053	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6740413	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs699662	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs699663	0.87[ASN][1000 genomes]
rs836230	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836231	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836233	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs836234	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs836235	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs856838	0.90[ASN][1000 genomes]
rs860704	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs866270	0.90[ASN][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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231336400-231363400	Weak transcription	Fetal Lung	lung
2	chr2:231336600-231363400	Weak transcription	Right Ventricle	heart
3	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
4	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:231346600-231370000	Weak transcription	K562	blood
6	chr2:231347200-231363200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:231352600-231376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:231355200-231380400	Strong transcription	Adipose Nuclei	Adipose
9	chr2:231355600-231378600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:231355800-231381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:231356000-231362200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:231356000-231363400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:231356200-231369200	Strong transcription	Fetal Thymus	thymus
14	chr2:231356400-231377000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:231356600-231363400	Weak transcription	Fetal Intestine Small	intestine
16	chr2:231357200-231363200	Weak transcription	Spleen	Spleen
17	chr2:231357200-231363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:231357200-231363600	Weak transcription	Gastric	stomach
19	chr2:231357200-231377800	Weak transcription	Stomach Mucosa	stomach
20	chr2:231357400-231363400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:231357400-231367000	Strong transcription	Liver	Liver
22	chr2:231357600-231363200	Weak transcription	Psoas Muscle	Psoas
23	chr2:231358200-231366400	Strong transcription	Osteobl	bone
24	chr2:231358400-231361800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:231358400-231365000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:231358400-231365600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr2:231358400-231369800	Strong transcription	HUVEC	blood vessel
28	chr2:231358400-231376600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:231358600-231361800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:231358600-231377400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:231358800-231362000	Strong transcription	Placenta	Placenta
32	chr2:231358800-231364600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:231358800-231366000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:231359200-231361800	Strong transcription	HSMMtube	muscle
35	chr2:231359200-231362000	Strong transcription	Dnd41	blood
36	chr2:231359600-231365600	Strong transcription	HSMM	muscle
37	chr2:231359600-231380400	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:231359800-231363600	Weak transcription	Esophagus	oesophagus
39	chr2:231359800-231368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:231360000-231363200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr2:231360000-231363400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:231360000-231363400	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:231360000-231363400	Weak transcription	Fetal Stomach	stomach
44	chr2:231360000-231363400	Weak transcription	Lung	lung
45	chr2:231360000-231363400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:231360000-231363400	Weak transcription	Thymus	Thymus
47	chr2:231360000-231363400	Weak transcription	HMEC	breast
48	chr2:231360000-231363600	Weak transcription	Ovary	ovary
49	chr2:231360000-231363600	Weak transcription	Pancreas	Pancrea
50	chr2:231360000-231363800	Weak transcription	Fetal Intestine Large	intestine

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