Variant report

Variant	rs11687379
Chromosome Location	chr2:233577725-233577726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10190211	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10209575	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10933407	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10933408	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11679581	0.90[EUR][1000 genomes]
rs11685169	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11688622	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11688691	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11694434	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11695762	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12052869	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12694915	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12694916	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13386650	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13396293	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13412034	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13412513	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13425525	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13429857	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1446307	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2289914	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2289915	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2293782	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2305139	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34063802	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34832091	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35778045	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35785837	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35928329	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41266951	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56054779	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62193305	0.90[EUR][1000 genomes]
rs6747479	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005582	0.90[EUR][1000 genomes]
rs7557131	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7564554	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9288675	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9288676	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9808146	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9973586	0.86[AMR][1000 genomes];0.99[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	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233563800-233582600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:233564000-233579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:233564000-233589000	Weak transcription	NH-A	brain
4	chr2:233564200-233596400	Weak transcription	NHLF	lung
5	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:233564800-233592800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
8	chr2:233565200-233589800	Weak transcription	HMEC	breast
9	chr2:233565200-233602000	Weak transcription	HUVEC	blood vessel
10	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
11	chr2:233565400-233580200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:233565400-233589800	Weak transcription	Hela-S3	cervix
13	chr2:233565400-233590000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:233566000-233578400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:233566000-233584600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
18	chr2:233567600-233577800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr2:233568000-233604400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:233568200-233583800	Strong transcription	HepG2	liver
21	chr2:233568200-233585400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:233568400-233578000	Strong transcription	Fetal Intestine Large	intestine
23	chr2:233568400-233585000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:233569000-233582000	Weak transcription	Brain Anterior Caudate	brain
25	chr2:233569000-233585600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:233569200-233579600	Weak transcription	Brain Substantia Nigra	brain
27	chr2:233569200-233589000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:233569200-233590000	Weak transcription	NHDF-Ad	bronchial
29	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
30	chr2:233569400-233581000	Weak transcription	Pancreas	Pancrea
31	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:233570400-233581200	Weak transcription	Psoas Muscle	Psoas
34	chr2:233570600-233593400	Weak transcription	Aorta	Aorta
35	chr2:233570800-233582400	Weak transcription	Spleen	Spleen
36	chr2:233571000-233579400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:233571200-233577800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:233571200-233581200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:233571200-233582400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:233571200-233593600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:233571200-233598200	Weak transcription	Fetal Kidney	kidney
42	chr2:233571200-233627400	Weak transcription	Gastric	stomach
43	chr2:233571400-233581000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:233571400-233582400	Weak transcription	Left Ventricle	heart
45	chr2:233571400-233585600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:233571400-233588600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:233571400-233601800	Weak transcription	Esophagus	oesophagus
48	chr2:233571600-233585600	Weak transcription	Right Ventricle	heart
49	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:233572000-233579600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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