Variant report

Variant	rs11694434
Chromosome Location	chr2:233603198-233603199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233602602..233605955-chr2:233608656..233612608,7	K562	blood:
2	chr2:233603140..233605139-chr2:233611874..233614371,3	MCF-7	breast:
3	chr2:233598909..233600734-chr2:233602251..233605163,2	K562	blood:
4	chr2:233598909..233602066-chr2:233602251..233606134,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10176930	0.84[ASN][1000 genomes]
rs10190211	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10207739	0.88[ASN][1000 genomes]
rs10209575	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10933407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10933408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11679581	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11684636	0.88[ASN][1000 genomes]
rs11685169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11687379	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11688622	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11688691	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11689661	0.88[ASN][1000 genomes]
rs11695762	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12052869	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12694915	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12988087	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13386650	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13396293	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13401578	0.94[ASN][1000 genomes]
rs13408229	0.88[ASN][1000 genomes]
rs13412034	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13412513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13425525	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13429857	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1446307	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289914	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2289915	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2293782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305139	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28491817	0.80[EUR][1000 genomes]
rs34063802	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34832091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35778045	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35785837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35928329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41266951	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56054779	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62193305	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6747479	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73005582	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7557131	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564554	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9288675	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288676	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9808146	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9973586	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
3	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
4	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
6	chr2:233568000-233604400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
8	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:233571200-233627400	Weak transcription	Gastric	stomach
11	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:233580000-233606000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:233580600-233604000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:233585800-233604400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
17	chr2:233586400-233603200	Strong transcription	Fetal Thymus	thymus
18	chr2:233586400-233612200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
20	chr2:233587200-233604400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:233587200-233613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:233588800-233605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:233589000-233603600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:233589000-233605800	Strong transcription	Liver	Liver
25	chr2:233589600-233619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
27	chr2:233592200-233604600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:233594800-233611800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:233594800-233612400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:233595000-233603800	Weak transcription	HSMMtube	muscle
31	chr2:233595000-233615600	Weak transcription	Spleen	Spleen
32	chr2:233595200-233612400	Weak transcription	Brain Anterior Caudate	brain
33	chr2:233595400-233612200	Weak transcription	Right Ventricle	heart
34	chr2:233596800-233604400	Strong transcription	Placenta	Placenta
35	chr2:233597200-233627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:233597800-233604000	Strong transcription	HepG2	liver
37	chr2:233598000-233603800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:233598000-233603800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:233598000-233604400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:233598000-233604400	Strong transcription	GM12878-XiMat	blood
41	chr2:233598000-233604800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:233598400-233604600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:233598600-233603400	Strong transcription	Fetal Intestine Large	intestine
44	chr2:233598800-233603400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:233598800-233604400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:233599000-233603200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:233599000-233603400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:233599000-233603400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr2:233599000-233603600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:233599000-233604400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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