Variant report

Variant	rs10183164
Chromosome Location	chr2:97257528-97257529
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	chr2:97257494..97261086-chr2:97426493..97430081,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158158	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10185002	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199227	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203766	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10209315	0.82[ASN][1000 genomes]
rs12614696	1.00[TSI][hapmap]
rs13384114	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13389475	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13393729	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13395011	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13398740	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870340	1.00[TSI][hapmap]
rs2292942	0.84[EUR][1000 genomes]
rs35715176	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55687728	0.92[ASN][1000 genomes]
rs55716397	0.92[ASN][1000 genomes]
rs59398186	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59426746	0.84[EUR][1000 genomes]
rs60326991	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61063398	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6718340	0.87[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6732115	1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs6733589	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753713	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939379	0.92[ASN][1000 genomes]
rs72941209	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72941214	0.97[ASN][1000 genomes]
rs72941219	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs747757	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7604736	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607990	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr2:97220400-97258000	Weak transcription	Ovary	ovary
2	chr2:97233000-97257800	Weak transcription	Gastric	stomach
3	chr2:97234600-97258200	Weak transcription	Aorta	Aorta
4	chr2:97237800-97257800	Weak transcription	Thymus	Thymus
5	chr2:97238200-97258200	Weak transcription	Spleen	Spleen
6	chr2:97239400-97257600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:97239600-97258800	Weak transcription	Right Ventricle	heart
8	chr2:97242400-97258200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:97242600-97257600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:97243600-97257800	Weak transcription	HepG2	liver
11	chr2:97243800-97257800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:97244800-97258000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:97244800-97259400	Weak transcription	Stomach Mucosa	stomach
14	chr2:97245600-97258200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:97246800-97258800	Weak transcription	Pancreas	Pancrea
16	chr2:97246800-97259200	Weak transcription	Fetal Brain Male	brain
17	chr2:97247000-97258200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:97247200-97259200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:97247400-97257800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:97247600-97258200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:97248000-97258400	Weak transcription	Brain Angular Gyrus	brain
22	chr2:97248400-97257800	Weak transcription	GM12878-XiMat	blood
23	chr2:97248400-97258400	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:97248400-97260000	Weak transcription	Colonic Mucosa	Colon
25	chr2:97248400-97283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:97248600-97257600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:97248600-97257600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:97248800-97266200	Weak transcription	Small Intestine	intestine
29	chr2:97249000-97257600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:97249200-97257800	Weak transcription	HMEC	breast
31	chr2:97249200-97258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:97249200-97258800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:97249200-97258800	Weak transcription	NHLF	lung
34	chr2:97249600-97258000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:97249600-97258600	Weak transcription	Fetal Kidney	kidney
36	chr2:97250200-97257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:97250200-97257800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:97250200-97257800	Weak transcription	Adipose Nuclei	Adipose
39	chr2:97251200-97259000	Weak transcription	HUVEC	blood vessel
40	chr2:97251600-97257600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:97251600-97258200	Weak transcription	NH-A	brain
42	chr2:97251600-97259000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:97251800-97257800	Weak transcription	Brain Germinal Matrix	brain
44	chr2:97252000-97257800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:97253200-97257800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:97253200-97258000	Weak transcription	Lung	lung
47	chr2:97253200-97258200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:97253200-97259000	Weak transcription	Esophagus	oesophagus
49	chr2:97253200-97259200	Weak transcription	HSMM	muscle
50	chr2:97253200-97266200	Weak transcription	Right Atrium	heart

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