Variant report

Variant	rs73915396
Chromosome Location	chr2:11338094-11338095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11332757..11334427-chr2:11336977..11338604,2	MCF-7	breast:
2	chr2:11336489..11338486-chr2:11405089..11406642,2	K562	blood:
3	chr2:11337211..11339670-chr2:11483049..11485544,2	K562	blood:
4	chr2:11337630..11339492-chr2:11341637..11343755,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10169455	0.94[ASN][1000 genomes]
rs10175719	0.81[ASN][1000 genomes]
rs10183296	0.94[ASN][1000 genomes]
rs10192593	1.00[ASN][1000 genomes]
rs10192994	0.94[ASN][1000 genomes]
rs10194620	0.94[ASN][1000 genomes]
rs10203916	0.94[ASN][1000 genomes]
rs11681822	0.94[ASN][1000 genomes]
rs12477052	0.81[ASN][1000 genomes]
rs12692435	0.94[ASN][1000 genomes]
rs12992581	0.94[ASN][1000 genomes]
rs12994807	0.94[ASN][1000 genomes]
rs13002722	0.94[ASN][1000 genomes]
rs13014721	0.94[ASN][1000 genomes]
rs1868584	1.00[ASN][1000 genomes]
rs2122384	0.94[ASN][1000 genomes]
rs2230775	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3771109	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353615	0.88[ASN][1000 genomes]
rs4668720	0.94[ASN][1000 genomes]
rs4669706	0.94[ASN][1000 genomes]
rs55714132	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57082519	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57282107	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57339546	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57404216	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57861284	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58007526	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58258043	1.00[AMR][1000 genomes]
rs58275781	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59194382	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59211791	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59266229	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59883361	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60643530	1.00[ASN][1000 genomes]
rs61575329	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6432184	1.00[ASN][1000 genomes]
rs6432185	0.82[ASN][1000 genomes]
rs6713382	0.88[ASN][1000 genomes]
rs6720821	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6730673	1.00[ASN][1000 genomes]
rs6732258	0.85[ASN][1000 genomes]
rs6736240	0.94[ASN][1000 genomes]
rs6755337	0.94[ASN][1000 genomes]
rs6759490	1.00[ASN][1000 genomes]
rs72785499	1.00[ASN][1000 genomes]
rs7355446	0.94[ASN][1000 genomes]
rs7355489	0.94[ASN][1000 genomes]
rs73915106	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915107	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915109	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915134	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915135	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73915140	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915144	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73915151	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915152	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915154	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915155	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73915156	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915158	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915159	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915164	1.00[AMR][1000 genomes]
rs73915165	1.00[AMR][1000 genomes]
rs73915388	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73915389	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73915390	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73915394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915395	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73917504	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73917507	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73917508	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73917511	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753770	0.94[ASN][1000 genomes]
rs7558664	1.00[ASN][1000 genomes]
rs7563468	0.94[ASN][1000 genomes]
rs7563928	0.94[ASN][1000 genomes]
rs7568064	1.00[ASN][1000 genomes]
rs7575837	0.94[ASN][1000 genomes]
rs7586803	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9712182	0.91[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	nsv1012083	chr2:11316299-11350604	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11296800-11379800	Weak transcription	Small Intestine	intestine
3	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
4	chr2:11299200-11357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
6	chr2:11314600-11364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:11315800-11339000	Weak transcription	Spleen	Spleen
8	chr2:11315800-11340400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:11316200-11344400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:11316200-11354200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:11316400-11351800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:11316600-11339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:11318600-11359200	Weak transcription	Fetal Heart	heart
15	chr2:11319000-11364200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:11320800-11377000	Strong transcription	HepG2	liver
17	chr2:11325600-11341000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:11326000-11356600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:11327200-11343400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:11327600-11344400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:11327800-11344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:11328000-11342600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:11328800-11342600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:11328800-11367600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:11329000-11342600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:11329000-11343200	Strong transcription	NHDF-Ad	bronchial
27	chr2:11329000-11343800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:11329200-11342200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:11329200-11342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:11329200-11343600	Strong transcription	Dnd41	blood
31	chr2:11329200-11364400	Strong transcription	Liver	Liver
32	chr2:11329200-11369200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:11329400-11342000	Strong transcription	Fetal Lung	lung
34	chr2:11329400-11342400	Strong transcription	Osteobl	bone
35	chr2:11329400-11343400	Strong transcription	HSMM	muscle
36	chr2:11330200-11339000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:11330200-11339200	Weak transcription	Fetal Stomach	stomach
38	chr2:11330200-11353400	Weak transcription	Gastric	stomach
39	chr2:11330400-11343200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:11331000-11338600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:11331200-11341800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:11331200-11342400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:11332200-11342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:11332400-11357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:11332600-11343200	Strong transcription	Hela-S3	cervix
46	chr2:11333200-11339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:11333400-11347400	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:11333600-11352200	Weak transcription	Psoas Muscle	Psoas
50	chr2:11333800-11340000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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