Variant report

Variant	rs57211905
Chromosome Location	chr2:233653969-233653970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11883745	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11883794	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11884898	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11885029	0.80[EUR][1000 genomes]
rs11885497	0.97[EUR][1000 genomes]
rs11885646	1.00[EUR][1000 genomes]
rs11890879	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11892639	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11894688	0.83[EUR][1000 genomes]
rs11897789	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11900295	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11900327	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11901015	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11904714	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271702	0.85[EUR][1000 genomes]
rs2289913	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289916	0.89[ASN][1000 genomes]
rs2293781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305138	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2344614	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2880899	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34487721	0.85[EUR][1000 genomes]
rs3738904	0.83[EUR][1000 genomes]
rs3816336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817310	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4144794	0.97[EUR][1000 genomes]
rs55686138	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55913849	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56140815	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56344253	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56953250	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57092158	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57513852	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57657135	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57667610	0.81[EUR][1000 genomes]
rs57986228	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58268778	0.83[EUR][1000 genomes]
rs58466616	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58520085	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58835825	0.85[EUR][1000 genomes]
rs59488869	0.83[EUR][1000 genomes]
rs59502980	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59514271	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59667905	0.83[EUR][1000 genomes]
rs60103392	0.81[EUR][1000 genomes]
rs60532570	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61518838	0.95[EUR][1000 genomes]
rs6719766	0.80[EUR][1000 genomes]
rs73092767	0.95[EUR][1000 genomes]
rs73092790	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73102244	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73102257	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73102286	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73106355	0.85[EUR][1000 genomes]
rs73106363	0.83[EUR][1000 genomes]
rs73107693	1.00[EUR][1000 genomes]
rs73108328	0.85[EUR][1000 genomes]
rs73108346	0.83[EUR][1000 genomes]
rs73995715	0.80[EUR][1000 genomes]
rs73999707	0.83[EUR][1000 genomes]
rs7560000	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564410	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7578385	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7598518	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7601559	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606011	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233628600-233655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:233629200-233655800	Weak transcription	Colonic Mucosa	Colon
4	chr2:233629400-233655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:233629400-233655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:233631600-233659200	Weak transcription	Psoas Muscle	Psoas
7	chr2:233636200-233655200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:233636200-233655200	Weak transcription	NHLF	lung
9	chr2:233636200-233655400	Weak transcription	Esophagus	oesophagus
10	chr2:233636400-233655000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:233641400-233654200	Weak transcription	Fetal Kidney	kidney
12	chr2:233641400-233655000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:233641400-233655000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:233641400-233662400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:233641800-233654400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:233642000-233667200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:233642200-233655400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:233642400-233655000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:233644600-233655400	Weak transcription	Gastric	stomach
20	chr2:233645400-233655400	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:233645400-233655400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:233646600-233655800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:233646800-233654400	Weak transcription	Hela-S3	cervix
24	chr2:233646800-233656200	Weak transcription	Stomach Mucosa	stomach
25	chr2:233648600-233664000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr2:233648800-233657400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:233648800-233666800	Strong transcription	HSMM	muscle
28	chr2:233648800-233668000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr2:233649200-233663000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:233649200-233665800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:233649400-233654000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:233649400-233663000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:233649400-233663400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:233649400-233665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:233649400-233666000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:233649400-233667600	Strong transcription	Fetal Thymus	thymus
38	chr2:233649600-233654400	Strong transcription	Thymus	Thymus
39	chr2:233649600-233663200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:233649600-233666800	Strong transcription	HepG2	liver
41	chr2:233649800-233655400	Weak transcription	Pancreas	Pancrea
42	chr2:233649800-233659000	Strong transcription	Fetal Lung	lung
43	chr2:233649800-233666400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:233649800-233667000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:233650000-233662200	Strong transcription	Fetal Brain Female	brain
46	chr2:233650000-233662800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:233650000-233663400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:233650200-233655400	Weak transcription	Lung	lung
49	chr2:233650400-233654600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:233650400-233655000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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