Variant report

Variant	rs57431226
Chromosome Location	chr2:36656951-36656952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36655361..36657186-chr2:36662322..36664635,2	K562	blood:
2	chr2:36605127..36607933-chr2:36655306..36657795,2	MCF-7	breast:
3	chr2:36653170..36656260-chr2:36656340..36659341,3	K562	blood:

Variant related genes	Relation type
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11673762	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1477048	1.00[EUR][1000 genomes]
rs1523788	0.81[EUR][1000 genomes]
rs17018723	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17018790	0.96[EUR][1000 genomes]
rs17018798	0.99[EUR][1000 genomes]
rs2110928	0.81[EUR][1000 genomes]
rs2276673	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34439217	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3770883	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3770884	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770885	0.99[EUR][1000 genomes]
rs3770886	0.99[EUR][1000 genomes]
rs3770887	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770888	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770891	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770897	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3770899	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3770910	0.87[ASN][1000 genomes]
rs3770914	0.85[ASN][1000 genomes]
rs3770922	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3770926	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3770927	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3821157	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56036545	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57785523	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58185473	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62136162	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6729186	0.99[EUR][1000 genomes]
rs7571902	1.00[EUR][1000 genomes]
rs876458	0.85[ASN][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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36641200-36659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:36644200-36657200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:36644200-36660000	Weak transcription	Fetal Brain Female	brain
5	chr2:36644400-36657200	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:36644400-36659600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:36644400-36665600	Weak transcription	Gastric	stomach
8	chr2:36648000-36657000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:36648000-36659600	Weak transcription	Brain Angular Gyrus	brain
10	chr2:36648000-36659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:36648000-36660200	Weak transcription	Pancreas	Pancrea
12	chr2:36648200-36660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:36648200-36660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:36648400-36657200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:36648600-36657200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:36648600-36659600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:36649000-36657600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:36649600-36662200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:36650000-36657400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:36650600-36659600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:36650600-36676600	Weak transcription	Stomach Mucosa	stomach
22	chr2:36651400-36658400	Genic enhancers	Osteobl	bone
23	chr2:36651400-36658800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:36651600-36657200	Weak transcription	Fetal Heart	heart
25	chr2:36651600-36659600	Weak transcription	Fetal Intestine Large	intestine
26	chr2:36651600-36668400	Weak transcription	Fetal Intestine Small	intestine
27	chr2:36651600-36668400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:36651800-36660200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:36651800-36668400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
31	chr2:36652000-36658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:36652200-36658800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:36652200-36668600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:36652400-36658800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:36652400-36660200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:36652400-36660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:36653000-36667800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:36653400-36669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:36654200-36659000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:36654400-36658000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:36654400-36658200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:36654400-36659000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:36654400-36659000	Genic enhancers	HUVEC	blood vessel
44	chr2:36654600-36658400	Genic enhancers	NHDF-Ad	bronchial
45	chr2:36654600-36660200	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr2:36654800-36660800	Enhancers	Ovary	ovary
47	chr2:36655000-36658800	Weak transcription	Small Intestine	intestine
48	chr2:36655200-36660400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:36655400-36657800	Weak transcription	Right Ventricle	heart
50	chr2:36655400-36659600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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