Variant report

Variant	rs10193357
Chromosome Location	chr2:190033526-190033527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190033187..190035934-chr2:190088474..190090590,2	MCF-7	breast:
2	chr2:190027832..190030639-chr2:190032693..190035632,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165488	1.00[AMR][1000 genomes]
rs10166867	1.00[AMR][1000 genomes]
rs10168625	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176299	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180374	1.00[AMR][1000 genomes]
rs10182790	1.00[AMR][1000 genomes]
rs10182959	1.00[AMR][1000 genomes]
rs10190048	1.00[AMR][1000 genomes]
rs10195176	1.00[AMR][1000 genomes]
rs10202897	1.00[AMR][1000 genomes]
rs10203522	1.00[AMR][1000 genomes]
rs10210715	1.00[AMR][1000 genomes]
rs13382234	1.00[AMR][1000 genomes]
rs13385828	1.00[AMR][1000 genomes]
rs13389070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392441	1.00[AMR][1000 genomes]
rs13395385	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396958	1.00[AMR][1000 genomes]
rs13398464	1.00[AMR][1000 genomes]
rs13401632	1.00[AMR][1000 genomes]
rs13405825	1.00[AMR][1000 genomes]
rs13407402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408124	1.00[AMR][1000 genomes]
rs13411962	1.00[AMR][1000 genomes]
rs13416565	1.00[AMR][1000 genomes]
rs13419998	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420752	1.00[AMR][1000 genomes]
rs13421412	1.00[AMR][1000 genomes]
rs13423791	1.00[AMR][1000 genomes]
rs13429781	1.00[AMR][1000 genomes]
rs13430867	1.00[AMR][1000 genomes]
rs13431520	1.00[AMR][1000 genomes]
rs13433016	1.00[AMR][1000 genomes]
rs28475172	1.00[AMR][1000 genomes]
rs28712861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28763874	1.00[AMR][1000 genomes]
rs28763875	1.00[AMR][1000 genomes]
rs59459440	1.00[AMR][1000 genomes]
rs6712385	1.00[AMR][1000 genomes]
rs6732228	1.00[AMR][1000 genomes]
rs73981448	1.00[AMR][1000 genomes]
rs73981451	1.00[AMR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190019600-190040000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:190028400-190033800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:190028800-190034200	Enhancers	Liver	Liver
4	chr2:190029000-190033600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:190029000-190037200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:190029200-190033600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:190029400-190040800	Weak transcription	Fetal Kidney	kidney
8	chr2:190029400-190042200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:190029600-190043400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:190029800-190033600	Enhancers	A549	lung
11	chr2:190029800-190036800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:190029800-190043200	Weak transcription	Psoas Muscle	Psoas
13	chr2:190030000-190036600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:190030000-190041200	Weak transcription	HUVEC	blood vessel
15	chr2:190030200-190034400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:190030200-190041200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:190030400-190036600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:190030400-190043400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:190030600-190033600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:190030600-190033600	Weak transcription	Fetal Stomach	stomach
21	chr2:190030600-190033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:190030600-190033800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:190031600-190033800	Weak transcription	Right Atrium	heart
24	chr2:190031600-190038800	Weak transcription	Aorta	Aorta
25	chr2:190031800-190035200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:190032000-190033600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:190032000-190033600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:190032000-190033600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:190032000-190033600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:190032000-190033600	Weak transcription	Ovary	ovary
31	chr2:190032000-190033600	Enhancers	NHDF-Ad	bronchial
32	chr2:190032000-190035000	Weak transcription	NH-A	brain
33	chr2:190032000-190036000	Weak transcription	Fetal Lung	lung
34	chr2:190032000-190036600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:190032000-190036600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:190032200-190033600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:190032200-190033600	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:190032200-190033600	Weak transcription	HSMMtube	muscle
39	chr2:190032200-190034600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:190032400-190033600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:190032400-190033600	Weak transcription	Osteobl	bone
42	chr2:190032600-190033600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:190032600-190033600	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:190032800-190036800	Weak transcription	NHLF	lung
45	chr2:190032800-190037200	Enhancers	Adipose Nuclei	Adipose
46	chr2:190033000-190033600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:190033000-190034200	Enhancers	HSMM	muscle
48	chr2:190033200-190033600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:190033200-190033800	Enhancers	HepG2	liver

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