Variant report

Variant	rs57785523
Chromosome Location	chr2:36654510-36654511
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	chr2:36653170..36656260-chr2:36656340..36659341,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11673762	0.82[AFR][1000 genomes]
rs11682688	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1523788	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17018699	0.81[EUR][1000 genomes]
rs17018723	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2110928	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2192920	0.90[EUR][1000 genomes]
rs3755207	0.83[EUR][1000 genomes]
rs3770883	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3770884	0.80[AFR][1000 genomes]
rs3770888	0.87[AFR][1000 genomes]
rs3770891	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3770897	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770899	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770903	0.93[EUR][1000 genomes]
rs3770910	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3770914	0.83[EUR][1000 genomes]
rs3770922	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3770926	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3770927	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3770930	0.83[EUR][1000 genomes]
rs3821164	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56036545	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57431226	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58185473	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62136162	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs876458	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2756915	chr2:36622906-36657305	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759041	chr2:36622906-36657305	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36636800-36656000	Weak transcription	Esophagus	oesophagus
2	chr2:36640000-36656000	Genic enhancers	A549	lung
3	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:36641200-36659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:36644200-36657200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:36644200-36660000	Weak transcription	Fetal Brain Female	brain
7	chr2:36644400-36656800	Weak transcription	Fetal Stomach	stomach
8	chr2:36644400-36657200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:36644400-36659600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:36644400-36665600	Weak transcription	Gastric	stomach
11	chr2:36644600-36656600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:36646200-36654600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:36647200-36654600	Weak transcription	Small Intestine	intestine
14	chr2:36648000-36656800	Weak transcription	Right Atrium	heart
15	chr2:36648000-36657000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:36648000-36659600	Weak transcription	Brain Angular Gyrus	brain
17	chr2:36648000-36659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:36648000-36660200	Weak transcription	Pancreas	Pancrea
19	chr2:36648200-36654600	Weak transcription	Lung	lung
20	chr2:36648200-36654800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:36648200-36656000	Weak transcription	Aorta	Aorta
22	chr2:36648200-36660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:36648200-36660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:36648400-36657200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:36648600-36657200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:36648600-36659600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:36649000-36657600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:36649400-36654600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:36649600-36662200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:36650000-36657400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:36650600-36659600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:36650600-36676600	Weak transcription	Stomach Mucosa	stomach
33	chr2:36650800-36654800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:36651200-36654600	Genic enhancers	NHLF	lung
35	chr2:36651400-36658400	Genic enhancers	Osteobl	bone
36	chr2:36651400-36658800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:36651600-36657200	Weak transcription	Fetal Heart	heart
38	chr2:36651600-36659600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:36651600-36668400	Weak transcription	Fetal Intestine Small	intestine
40	chr2:36651600-36668400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:36651800-36655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:36651800-36660200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:36651800-36668400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
45	chr2:36652000-36654800	Weak transcription	NHEK	skin
46	chr2:36652000-36656600	Weak transcription	HSMMtube	muscle
47	chr2:36652000-36658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:36652200-36654800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:36652200-36658800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:36652200-36668600	Weak transcription	Primary B cells from cord blood	blood

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