Variant report

Variant	rs6576973
Chromosome Location	chr2:97218367-97218368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97202772..97204469-chr2:97218141..97220176,2	MCF-7	breast:
2	chr2:97216820..97219000-chr2:97293306..97295394,2	K562	blood:
3	chr2:97204810..97207371-chr2:97218053..97221683,3	MCF-7	breast:
4	chr2:97202688..97205272-chr2:97216353..97219452,4	K562	blood:
5	chr2:97216922..97219921-chr2:97223099..97224803,2	K562	blood:
6	chr2:97215029..97218765-chr2:97301960..97304142,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196843	Chromatin interaction
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10427212	0.92[EUR][1000 genomes]
rs17119507	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17119523	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2292939	1.00[CEU][hapmap]
rs59021132	0.92[EUR][1000 genomes]
rs59118112	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60378028	0.88[EUR][1000 genomes]
rs60501446	0.92[EUR][1000 genomes]
rs6576975	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6715933	0.96[EUR][1000 genomes]
rs6723188	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[EUR][1000 genomes]
rs72939377	0.92[EUR][1000 genomes]
rs7605469	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7608325	1.00[GIH][hapmap];0.92[EUR][1000 genomes]
rs9752465	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97203800-97220000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:97204400-97220000	Weak transcription	HSMM	muscle
3	chr2:97205800-97220000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:97206000-97218800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:97206000-97220000	Weak transcription	Fetal Heart	heart
6	chr2:97206600-97220000	Weak transcription	NHEK	skin
7	chr2:97206600-97222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:97207200-97219600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:97207600-97219600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:97207800-97219000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:97208000-97219000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:97209000-97220400	Weak transcription	Psoas Muscle	Psoas
13	chr2:97211800-97218400	Strong transcription	Adipose Nuclei	Adipose
14	chr2:97211800-97219600	Strong transcription	Fetal Stomach	stomach
15	chr2:97212000-97218800	Strong transcription	Right Ventricle	heart
16	chr2:97212600-97219000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:97212600-97219200	Strong transcription	Spleen	Spleen
18	chr2:97212600-97219200	Strong transcription	GM12878-XiMat	blood
19	chr2:97212600-97220000	Weak transcription	Small Intestine	intestine
20	chr2:97212600-97222400	Weak transcription	K562	blood
21	chr2:97212800-97218800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:97212800-97218800	Strong transcription	Dnd41	blood
23	chr2:97212800-97219200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:97212800-97219400	Strong transcription	Fetal Thymus	thymus
25	chr2:97212800-97219600	Strong transcription	Thymus	Thymus
26	chr2:97213000-97218600	Strong transcription	Left Ventricle	heart
27	chr2:97213000-97219400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:97213000-97219600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:97213200-97218800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:97213200-97218800	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:97213200-97218800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:97213200-97218800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:97213200-97219000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:97213200-97219000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:97213200-97219600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:97213400-97218600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:97213400-97218800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:97213400-97218800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:97213400-97218800	Strong transcription	Colonic Mucosa	Colon
40	chr2:97213400-97219200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:97213600-97222200	Weak transcription	NH-A	brain
42	chr2:97213800-97219000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:97213800-97219000	Strong transcription	Brain Hippocampus Middle	brain
44	chr2:97213800-97219200	Strong transcription	Primary T cells from cord blood	blood
45	chr2:97213800-97219200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr2:97214000-97220400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:97214000-97220400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:97214000-97223600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:97214200-97219200	Strong transcription	Aorta	Aorta
50	chr2:97214400-97218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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