Variant report

Variant	rs72910347
Chromosome Location	chr2:190040147-190040148
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190039205..190041419-chr2:190045253..190047798,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10497699	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931402	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10931406	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10931410	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11675295	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11676812	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11677073	0.85[ASN][1000 genomes]
rs11678388	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11681937	0.85[ASN][1000 genomes]
rs11684417	0.85[ASN][1000 genomes]
rs11684869	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11687908	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11690774	0.94[EUR][1000 genomes]
rs11693810	0.85[ASN][1000 genomes]
rs11695837	0.87[EUR][1000 genomes]
rs12472232	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1515873	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1515875	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1519185	0.85[ASN][1000 genomes]
rs1520862	0.85[ASN][1000 genomes]
rs17198773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17198780	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198787	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198815	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17198829	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17270952	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17270966	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17270973	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17270987	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17271008	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17271015	0.85[ASN][1000 genomes]
rs1996576	0.85[ASN][1000 genomes]
rs2683013	0.85[ASN][1000 genomes]
rs2683014	0.85[ASN][1000 genomes]
rs35598715	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55726777	0.81[ASN][1000 genomes]
rs55851872	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56252219	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56381644	0.80[EUR][1000 genomes]
rs59031473	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61130121	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61528955	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62182060	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62182061	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62182066	0.85[ASN][1000 genomes]
rs62182068	0.85[ASN][1000 genomes]
rs62182069	0.85[ASN][1000 genomes]
rs62182415	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62182420	0.81[EUR][1000 genomes]
rs62182421	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62182454	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62182457	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182458	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62182459	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183794	0.97[ASN][1000 genomes]
rs62183841	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62183844	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62183845	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62183846	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183847	0.85[EUR][1000 genomes]
rs62183848	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72908368	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72908382	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72910360	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72912280	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72912286	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72914141	0.85[ASN][1000 genomes]
rs7564429	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7586853	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190029400-190040800	Weak transcription	Fetal Kidney	kidney
2	chr2:190029400-190042200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:190029600-190043400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:190029800-190043200	Weak transcription	Psoas Muscle	Psoas
5	chr2:190030000-190041200	Weak transcription	HUVEC	blood vessel
6	chr2:190030200-190041200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:190030400-190043400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:190034000-190040800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:190034000-190043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:190034200-190041400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:190034800-190040400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:190036200-190040600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:190037000-190040400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:190037000-190040400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:190037000-190040800	Weak transcription	Right Atrium	heart
16	chr2:190037000-190041000	Weak transcription	Ovary	ovary
17	chr2:190037200-190040600	Weak transcription	Fetal Lung	lung
18	chr2:190037400-190040400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:190037400-190040800	Weak transcription	Fetal Heart	heart
20	chr2:190037400-190040800	Weak transcription	Fetal Stomach	stomach
21	chr2:190037400-190041200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:190037400-190041400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:190037400-190042600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:190037400-190042600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:190038600-190040600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:190038800-190040200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:190038800-190040200	Genic enhancers	Osteobl	bone
28	chr2:190038800-190040600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:190038800-190040600	Genic enhancers	A549	lung
30	chr2:190038800-190040800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:190039200-190040400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:190039200-190040800	Weak transcription	Aorta	Aorta
33	chr2:190039200-190040800	Weak transcription	NHLF	lung
34	chr2:190039600-190040200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:190039600-190040600	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr2:190039800-190040400	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr2:190039800-190040600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:190039800-190040800	Weak transcription	NH-A	brain
39	chr2:190039800-190044800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:190040000-190040400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:190040000-190040400	Enhancers	Adipose Nuclei	Adipose
42	chr2:190040000-190040400	Weak transcription	HSMM	muscle
43	chr2:190040000-190040600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:190040000-190040600	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr2:190040000-190040600	Weak transcription	NHDF-Ad	bronchial
46	chr2:190040000-190040800	Weak transcription	HSMMtube	muscle

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