Variant report

Variant	rs13412034
Chromosome Location	chr2:233589672-233589673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233582922..233585762-chr2:233588795..233591759,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10176930	0.82[AFR][1000 genomes]
rs10190211	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10207739	0.80[ASN][1000 genomes]
rs10209575	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10933407	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10933408	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11679581	0.91[EUR][1000 genomes]
rs11684636	0.80[ASN][1000 genomes]
rs11685169	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11687379	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11688622	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11688691	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11689661	0.80[ASN][1000 genomes]
rs11694434	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11695762	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12052869	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12694915	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694916	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13386650	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396293	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13401578	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13408229	0.80[ASN][1000 genomes]
rs13412513	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13425525	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13429857	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1446307	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289914	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2289915	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2293782	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305139	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28491817	0.80[EUR][1000 genomes]
rs34063802	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34832091	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35778045	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35785837	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35928329	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41266951	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56054779	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62193305	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6747479	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73005582	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7557131	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564554	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9288675	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9288676	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9808146	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9973586	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	chr2:233564200-233596400	Weak transcription	NHLF	lung
2	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:233564800-233592800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
5	chr2:233565200-233589800	Weak transcription	HMEC	breast
6	chr2:233565200-233602000	Weak transcription	HUVEC	blood vessel
7	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
8	chr2:233565400-233589800	Weak transcription	Hela-S3	cervix
9	chr2:233565400-233590000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
12	chr2:233568000-233604400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:233569200-233590000	Weak transcription	NHDF-Ad	bronchial
14	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
15	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:233570600-233593400	Weak transcription	Aorta	Aorta
18	chr2:233571200-233593600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:233571200-233598200	Weak transcription	Fetal Kidney	kidney
20	chr2:233571200-233627400	Weak transcription	Gastric	stomach
21	chr2:233571400-233601800	Weak transcription	Esophagus	oesophagus
22	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:233572200-233589800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:233572200-233589800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:233572200-233591600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:233572200-233593200	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:233573600-233589800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:233574400-233593400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:233580000-233606000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:233580200-233596000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:233580600-233604000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:233580800-233595200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:233581000-233594200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:233581800-233591200	Strong transcription	Dnd41	blood
35	chr2:233582000-233590600	Strong transcription	Primary B cells from cord blood	blood
36	chr2:233582400-233591400	Strong transcription	Placenta	Placenta
37	chr2:233582800-233592800	Weak transcription	HSMMtube	muscle
38	chr2:233584200-233590000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:233584200-233590000	Weak transcription	A549	lung
40	chr2:233584400-233592600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:233585000-233592200	Weak transcription	Fetal Lung	lung
42	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:233585400-233595000	Strong transcription	HepG2	liver
44	chr2:233585600-233595000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:233585600-233595200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:233585800-233604400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
48	chr2:233586200-233589800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:233586200-233590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:233586400-233590000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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