Variant report

Variant	rs57657135
Chromosome Location	chr2:233694794-233694795
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	chr2:233688669..233690296-chr2:233693900..233696171,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11883745	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11883794	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11884898	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11885497	0.93[EUR][1000 genomes]
rs11885646	0.95[EUR][1000 genomes]
rs11890879	0.98[EUR][1000 genomes]
rs11892639	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11894688	0.83[EUR][1000 genomes]
rs11897789	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11900295	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11900327	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11901015	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11904714	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2271702	0.81[EUR][1000 genomes]
rs2289913	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2293781	0.95[EUR][1000 genomes]
rs2305138	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2344614	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2880899	0.95[EUR][1000 genomes]
rs34487721	0.81[EUR][1000 genomes]
rs3738904	0.83[EUR][1000 genomes]
rs3816336	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3817310	0.95[EUR][1000 genomes]
rs4144794	0.98[EUR][1000 genomes]
rs55686138	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55913849	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56140815	0.95[EUR][1000 genomes]
rs56344253	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56953250	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57092158	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57211905	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57513852	0.81[EUR][1000 genomes]
rs57667610	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57986228	0.95[EUR][1000 genomes]
rs58268778	0.83[EUR][1000 genomes]
rs58466616	0.90[EUR][1000 genomes]
rs58520085	0.98[EUR][1000 genomes]
rs58835825	0.81[EUR][1000 genomes]
rs59488869	0.83[EUR][1000 genomes]
rs59502980	0.95[EUR][1000 genomes]
rs59514271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59667905	0.83[EUR][1000 genomes]
rs60103392	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60532570	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61518838	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6719766	0.81[EUR][1000 genomes]
rs73092767	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73092790	0.95[EUR][1000 genomes]
rs73102244	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73102257	0.95[EUR][1000 genomes]
rs73102286	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73106355	0.81[EUR][1000 genomes]
rs73106363	0.83[EUR][1000 genomes]
rs73107693	0.95[EUR][1000 genomes]
rs73108328	0.81[EUR][1000 genomes]
rs73108346	0.83[EUR][1000 genomes]
rs73999707	0.83[EUR][1000 genomes]
rs7560000	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7564410	0.98[EUR][1000 genomes]
rs7578385	0.95[EUR][1000 genomes]
rs7598518	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7601559	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7606011	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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:125 , 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	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:233669400-233703600	Strong transcription	Liver	Liver
5	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:233670200-233699600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:233670200-233702600	Strong transcription	HepG2	liver
8	chr2:233670800-233700200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:233671000-233700400	Strong transcription	Fetal Intestine Large	intestine
10	chr2:233678200-233698200	Weak transcription	Stomach Mucosa	stomach
11	chr2:233680600-233698600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:233681600-233702400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:233681800-233694800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:233681800-233695400	Weak transcription	Esophagus	oesophagus
15	chr2:233681800-233695600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:233681800-233695600	Weak transcription	Right Ventricle	heart
17	chr2:233681800-233695800	Weak transcription	Gastric	stomach
18	chr2:233681800-233702200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:233682000-233695400	Weak transcription	Small Intestine	intestine
20	chr2:233683000-233695400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:233683000-233695400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:233683600-233695800	Weak transcription	HMEC	breast
23	chr2:233684400-233702400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:233686200-233694800	Weak transcription	Spleen	Spleen
25	chr2:233686200-233696600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:233686200-233696600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:233686200-233697600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:233686800-233694800	Weak transcription	NHDF-Ad	bronchial
29	chr2:233687000-233700400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:233687600-233702400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:233687800-233701600	Strong transcription	Fetal Thymus	thymus
32	chr2:233688000-233702400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:233688600-233695600	Weak transcription	NHLF	lung
34	chr2:233688600-233701600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:233689000-233695200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:233689000-233695600	Weak transcription	Fetal Brain Male	brain
37	chr2:233689000-233713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:233689200-233698600	Weak transcription	Pancreas	Pancrea
39	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:233689400-233695800	Weak transcription	Lung	lung
41	chr2:233689600-233695400	Weak transcription	Aorta	Aorta
42	chr2:233689600-233695600	Weak transcription	Brain Substantia Nigra	brain
43	chr2:233689600-233697400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:233689800-233695800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:233689800-233698200	Weak transcription	Fetal Heart	heart
46	chr2:233690000-233694800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:233690000-233695600	Weak transcription	Colonic Mucosa	Colon
48	chr2:233690200-233694800	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:233690200-233694800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:233690200-233695800	Weak transcription	Rectal Smooth Muscle	rectum

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