Variant report

Variant	rs4673499
Chromosome Location	chr2:211013993-211013994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10197463	0.89[MKK][hapmap]
rs10207166	0.87[YRI][hapmap]
rs11682724	0.85[ASW][hapmap];0.84[AMR][1000 genomes]
rs2041654	0.92[ASW][hapmap];0.83[LWK][hapmap];0.82[MKK][hapmap]
rs2110315	0.88[MKK][hapmap]
rs2539009	0.81[MKK][hapmap]
rs263672	0.82[MKK][hapmap]
rs263691	0.80[MKK][hapmap]
rs263692	0.83[ASW][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6761902	0.89[MKK][hapmap]
rs7559579	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7567227	0.92[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7586674	0.92[ASW][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];0.87[AFR][1000 genomes];0.91[AMR][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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv875766	chr2:210996084-211033176	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210990600-211018200	Weak transcription	Fetal Heart	heart
2	chr2:210991000-211018200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:210991400-211018200	Weak transcription	HSMMtube	muscle
4	chr2:210992400-211015000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:210997200-211022000	Weak transcription	Psoas Muscle	Psoas
6	chr2:211002200-211031400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:211005400-211020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:211005600-211021000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:211006200-211032000	Weak transcription	HUVEC	blood vessel
10	chr2:211007600-211018000	Weak transcription	HepG2	liver
11	chr2:211008000-211032000	Weak transcription	HSMM	muscle
12	chr2:211008200-211018200	Weak transcription	GM12878-XiMat	blood
13	chr2:211008600-211018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:211008800-211027200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:211009200-211018200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:211009200-211027200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:211010200-211034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:211010400-211018600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:211010400-211019400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:211010400-211027200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:211010800-211014200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:211010800-211017000	Weak transcription	Placenta	Placenta
23	chr2:211010800-211018200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:211010800-211018200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:211010800-211018400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:211010800-211019800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:211010800-211020400	Weak transcription	NHLF	lung
28	chr2:211010800-211022200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:211010800-211022200	Weak transcription	Right Ventricle	heart
30	chr2:211010800-211023800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:211010800-211027000	Weak transcription	Small Intestine	intestine
32	chr2:211010800-211030800	Weak transcription	Esophagus	oesophagus
33	chr2:211010800-211033200	Weak transcription	Fetal Brain Male	brain
34	chr2:211010800-211034400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:211011000-211015800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:211011000-211016800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:211011000-211018000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:211011000-211018000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:211011000-211018200	Weak transcription	Brain Substantia Nigra	brain
40	chr2:211011000-211018200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:211011000-211018400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:211011000-211018400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:211011000-211020000	Weak transcription	Spleen	Spleen
44	chr2:211011000-211020400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:211011000-211023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:211011000-211027000	Weak transcription	Gastric	stomach
47	chr2:211011000-211027200	Weak transcription	Brain Angular Gyrus	brain
48	chr2:211011000-211027400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:211011000-211031200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:211011000-211032800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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