Variant report

Variant	rs888075
Chromosome Location	chr2:36635322-36635323
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10186135	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10203010	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11124514	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11124515	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11124516	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1159133	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12465282	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12465297	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12477836	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12994926	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13394052	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407488	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755214	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770913	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3770924	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3770932	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770936	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4233914	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670554	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711707	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6755048	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7589917	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs848506	0.87[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:95 , 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	chr2:36611600-36635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:36618600-36643000	Genic enhancers	Osteobl	bone
5	chr2:36624800-36643600	Weak transcription	Colonic Mucosa	Colon
6	chr2:36625600-36635600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:36625600-36643800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:36625800-36642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:36626000-36643800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:36626600-36637800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:36629400-36635400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:36630200-36641000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:36631000-36638200	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:36631000-36639000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:36631000-36639600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:36631400-36637000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:36631400-36639000	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr2:36631400-36639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:36631600-36635400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:36631600-36637800	Weak transcription	Small Intestine	intestine
21	chr2:36631600-36644600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:36631800-36637000	Genic enhancers	HUVEC	blood vessel
23	chr2:36631800-36639600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:36632000-36640200	Weak transcription	Fetal Brain Female	brain
25	chr2:36632200-36648000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:36632400-36635600	Genic enhancers	NHEK	skin
27	chr2:36632400-36639000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:36632400-36639600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:36632600-36635400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:36632600-36635400	Weak transcription	Right Atrium	heart
31	chr2:36632600-36636800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:36632600-36638000	Weak transcription	Brain Substantia Nigra	brain
33	chr2:36632800-36635400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:36632800-36635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:36632800-36635400	Weak transcription	Esophagus	oesophagus
36	chr2:36632800-36637000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:36632800-36637000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:36632800-36637200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:36633400-36638400	Enhancers	NH-A	brain
40	chr2:36633400-36639600	Enhancers	Adipose Nuclei	Adipose
41	chr2:36633400-36639800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:36633400-36640600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:36633600-36635400	Weak transcription	Aorta	Aorta
44	chr2:36633600-36636600	Weak transcription	Right Ventricle	heart
45	chr2:36633600-36636600	Weak transcription	HepG2	liver
46	chr2:36633600-36639200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:36633800-36635400	Enhancers	Fetal Kidney	kidney
48	chr2:36633800-36635400	Weak transcription	Psoas Muscle	Psoas
49	chr2:36633800-36635800	Genic enhancers	HSMM	muscle
50	chr2:36633800-36636000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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