Variant report

Variant	rs7568385
Chromosome Location	chr2:233708066-233708067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10933411	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10933412	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11676216	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12694917	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1446311	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1867778	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1947105	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2044449	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2100053	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305137	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2592102	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2592113	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2592115	0.81[ASN][1000 genomes]
rs2592116	0.81[ASN][1000 genomes]
rs2592117	0.81[ASN][1000 genomes]
rs2674839	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2675966	0.81[ASN][1000 genomes]
rs2675967	0.81[ASN][1000 genomes]
rs2675971	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2675973	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2675974	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3816334	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4973053	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4973054	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4973055	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4973056	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6437074	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs709933	0.81[ASN][1000 genomes]
rs709934	0.81[ASN][1000 genomes]
rs7558609	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7587309	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7589201	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs778338	0.81[ASN][1000 genomes]
rs778340	0.81[ASN][1000 genomes]
rs809639	0.81[ASN][1000 genomes]
rs812383	0.81[ASN][1000 genomes]
rs895430	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9653383	0.82[EUR][1000 genomes]
rs991873	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233689000-233713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:233691200-233717200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:233696400-233714200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:233698400-233723600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:233699200-233712000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:233699200-233717000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:233699800-233717000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:233700600-233708800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:233700600-233714200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:233701000-233729200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:233701800-233717000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:233702600-233708800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:233703200-233708600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:233703400-233712000	Weak transcription	Right Ventricle	heart
18	chr2:233703400-233712600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:233703400-233716600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:233703400-233717000	Strong transcription	Placenta	Placenta
21	chr2:233703400-233718600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:233703400-233726400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:233703400-233726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:233703600-233708800	Weak transcription	Pancreas	Pancrea
25	chr2:233703600-233714200	Weak transcription	Stomach Mucosa	stomach
26	chr2:233703600-233717200	Strong transcription	Thymus	Thymus
27	chr2:233703600-233718400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:233703600-233725200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:233703800-233716800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:233703800-233717000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:233703800-233717000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:233703800-233717200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:233703800-233724800	Strong transcription	Dnd41	blood
34	chr2:233704000-233708800	Weak transcription	Colonic Mucosa	Colon
35	chr2:233704000-233709600	Strong transcription	Psoas Muscle	Psoas
36	chr2:233704000-233717000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:233704000-233717200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:233704000-233721400	Strong transcription	Fetal Intestine Large	intestine
39	chr2:233704200-233716200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:233704200-233716800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:233704200-233717000	Strong transcription	GM12878-XiMat	blood
42	chr2:233704200-233718200	Strong transcription	Fetal Brain Female	brain
43	chr2:233704200-233719200	Strong transcription	Fetal Muscle Leg	muscle
44	chr2:233704200-233725000	Strong transcription	Fetal Thymus	thymus
45	chr2:233704400-233716800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:233704400-233716800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:233704400-233717000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:233704400-233726200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:233704400-233726600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:233704600-233708800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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