Variant report

Variant	rs1649929
Chromosome Location	chr2:231340685-231340686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1050224	0.99[ASN][1000 genomes]
rs1615190	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1622283	0.99[ASN][1000 genomes]
rs1622822	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622980	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1649869	0.99[ASN][1000 genomes]
rs1649884	0.99[ASN][1000 genomes]
rs1649890	0.99[ASN][1000 genomes]
rs1649925	0.86[AMR][1000 genomes]
rs1678151	0.86[AMR][1000 genomes]
rs1678199	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs1678210	0.93[AMR][1000 genomes]
rs1678211	0.86[AMR][1000 genomes]
rs2219811	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972955	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973324	0.91[AMR][1000 genomes]
rs4973325	0.86[AMR][1000 genomes]
rs6436942	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
2	chr2:231301800-231345000	Weak transcription	A549	lung
3	chr2:231329600-231343800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:231332000-231345200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:231332400-231344400	Weak transcription	Gastric	stomach
6	chr2:231334200-231356000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:231334800-231358400	Weak transcription	Fetal Stomach	stomach
8	chr2:231335000-231344400	Weak transcription	Aorta	Aorta
9	chr2:231335000-231359000	Weak transcription	NHLF	lung
10	chr2:231335600-231344600	Weak transcription	Pancreas	Pancrea
11	chr2:231336000-231343800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:231336000-231344400	Weak transcription	Esophagus	oesophagus
13	chr2:231336000-231356000	Weak transcription	NHDF-Ad	bronchial
14	chr2:231336200-231342200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:231336200-231344400	Weak transcription	HSMMtube	muscle
16	chr2:231336400-231343800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:231336400-231345200	Weak transcription	Small Intestine	intestine
18	chr2:231336400-231363400	Weak transcription	Fetal Lung	lung
19	chr2:231336600-231342200	Weak transcription	Ovary	ovary
20	chr2:231336600-231344200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:231336600-231345000	Weak transcription	Spleen	Spleen
22	chr2:231336600-231356200	Weak transcription	Placenta	Placenta
23	chr2:231336600-231363400	Weak transcription	Right Ventricle	heart
24	chr2:231336800-231343400	Weak transcription	HSMM	muscle
25	chr2:231336800-231343800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:231336800-231344200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
28	chr2:231337000-231342200	Weak transcription	HUVEC	blood vessel
29	chr2:231337800-231351400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:231337800-231359200	Weak transcription	HMEC	breast
31	chr2:231338000-231344200	Weak transcription	Osteobl	bone
32	chr2:231338000-231344400	Weak transcription	NHEK	skin
33	chr2:231338400-231340800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:231338400-231341600	Weak transcription	Left Ventricle	heart
35	chr2:231338400-231343800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:231338400-231344200	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:231338400-231344200	Weak transcription	Thymus	Thymus
38	chr2:231338400-231344400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:231338400-231355200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:231338600-231340800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:231338600-231344200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:231338600-231344200	Weak transcription	Dnd41	blood
44	chr2:231338600-231344400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:231338800-231341600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:231338800-231343400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:231338800-231344200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:231338800-231344600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:231338800-231346200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:231338800-231351800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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