Variant report

Variant	rs3770930
Chromosome Location	chr2:36629110-36629111
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11124512	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11673762	0.81[ASN][1000 genomes]
rs1523788	0.84[EUR][1000 genomes]
rs17018688	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17018699	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17018723	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2110928	0.84[EUR][1000 genomes]
rs2192920	0.93[EUR][1000 genomes]
rs3770883	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770897	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770899	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770903	0.89[EUR][1000 genomes]
rs3770910	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770914	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770922	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770926	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770927	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770937	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821164	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57785523	0.83[EUR][1000 genomes]
rs876458	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36604400-36640400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:36604400-36640600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:36611600-36632400	Weak transcription	Esophagus	oesophagus
4	chr2:36611600-36635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:36616800-36631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:36616800-36635000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:36617000-36633400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:36617200-36630800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:36617200-36631200	Weak transcription	Fetal Kidney	kidney
10	chr2:36617200-36633800	Weak transcription	Fetal Lung	lung
11	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:36618600-36643000	Genic enhancers	Osteobl	bone
14	chr2:36620200-36635000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:36620800-36629200	Genic enhancers	Muscle Satellite Cultured Cells	--
16	chr2:36621000-36630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:36621000-36631400	Weak transcription	Fetal Brain Female	brain
18	chr2:36621000-36635000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:36621000-36635200	Weak transcription	Lung	lung
20	chr2:36621200-36630800	Weak transcription	Spleen	Spleen
21	chr2:36621200-36634800	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:36621200-36634800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:36621200-36635000	Weak transcription	Fetal Stomach	stomach
24	chr2:36622600-36630600	Genic enhancers	HUVEC	blood vessel
25	chr2:36622800-36629400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:36622800-36630600	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:36622800-36631400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:36623000-36632200	Weak transcription	Right Atrium	heart
29	chr2:36623400-36629600	Strong transcription	Placenta	Placenta
30	chr2:36623600-36630800	Genic enhancers	NHLF	lung
31	chr2:36624000-36631400	Enhancers	Psoas Muscle	Psoas
32	chr2:36624200-36629600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:36624200-36635000	Weak transcription	Brain Angular Gyrus	brain
34	chr2:36624400-36630800	Weak transcription	Small Intestine	intestine
35	chr2:36624600-36630400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:36624600-36630800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:36624600-36634600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:36624800-36643600	Weak transcription	Colonic Mucosa	Colon
39	chr2:36625200-36635000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:36625400-36630800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:36625600-36629400	Strong transcription	HepG2	liver
42	chr2:36625600-36630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:36625600-36635600	Weak transcription	Fetal Intestine Large	intestine
44	chr2:36625600-36643800	Weak transcription	Fetal Intestine Small	intestine
45	chr2:36625800-36642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:36626000-36643800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:36626400-36631000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:36626400-36632400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:36626600-36629800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:36626600-36630600	Weak transcription	Right Ventricle	heart

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