Variant report

Variant	rs293799
Chromosome Location	chr3:191068132-191068133
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	chr3:191047039..191048673-chr3:191068047..191069756,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188958	Chromatin interaction

Extended variants
information (count: 212 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12636442	0.97[ASN][1000 genomes]
rs12636482	0.97[ASN][1000 genomes]
rs16866491	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2018996	0.94[ASN][1000 genomes]
rs293843	1.00[CEU][hapmap];0.85[ASN][1000 genomes]
rs293847	0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs297370	0.88[ASN][1000 genomes]
rs366693	0.88[ASN][1000 genomes]
rs3796222	0.94[ASN][1000 genomes]
rs485788	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.88[ASN][1000 genomes]
rs510014	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs56772293	0.97[ASN][1000 genomes]
rs574206	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs58266557	0.98[ASN][1000 genomes]
rs61177977	0.95[ASN][1000 genomes]
rs6789446	0.86[CHB][hapmap]
rs695879	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs73888563	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv461049	chr3:191059322-191069984	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv592819	chr3:191059322-191069984	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv461051	chr3:191060954-191069984	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv461052	chr3:191060954-191069984	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv461053	chr3:191060954-191069984	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv592820	chr3:191060954-191069984	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv461054	chr3:191060954-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv592821	chr3:191060954-191073228	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv592822	chr3:191061214-191068588	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv592823	chr3:191061214-191069984	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv461055	chr3:191061214-191073228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv461056	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv592824	chr3:191061214-191073228	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv878105	chr3:191061214-191073228	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv516440	chr3:191061214-191073706	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv1821963	chr3:191061952-191071078	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv3463845	chr3:191063058-191070856	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv3463846	chr3:191063058-191070856	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv3429054	chr3:191063458-191072756	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv592825	chr3:191063743-191069984	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv437353	chr3:191063743-191073228	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	nsv437354	chr3:191063743-191073228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	esv3486622	chr3:191063908-191072706	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	esv1803444	chr3:191063961-191071078	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv1806634	chr3:191063961-191071078	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv1851287	chr3:191063961-191071078	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv508266	chr3:191064212-191083637	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	nsv965411	chr3:191064232-191071728	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv10371	chr3:191064248-191071834	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv3463078	chr3:191064302-191071930	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv1822673	chr3:191064330-191071078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	esv1808657	chr3:191064330-191081793	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
41	nsv592826	chr3:191064528-191070810	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	nsv592827	chr3:191064528-191073228	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
43	nsv878106	chr3:191064528-191081344	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
44	esv3463076	chr3:191064547-191071768	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv435761	chr3:191064550-191073833	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
46	esv3486623	chr3:191064583-191071753	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	esv3486618	chr3:191064586-191071714	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	esv3463079	chr3:191064602-191071736	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	esv1793675	chr3:191064603-191071278	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	esv1798817	chr3:191064603-191071278	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191059600-191069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
4	chr3:191060800-191068400	Weak transcription	Stomach Mucosa	stomach
5	chr3:191061000-191068200	Weak transcription	Right Atrium	heart
6	chr3:191061000-191068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:191061000-191069400	Weak transcription	Spleen	Spleen
8	chr3:191061000-191070800	Weak transcription	Lung	lung
9	chr3:191061200-191068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:191062000-191069200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:191062000-191075600	Weak transcription	K562	blood
14	chr3:191062200-191068200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
16	chr3:191062600-191070800	Weak transcription	Pancreas	Pancrea
17	chr3:191062800-191068200	Weak transcription	Aorta	Aorta
18	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
19	chr3:191063400-191068200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:191063400-191068400	Weak transcription	Small Intestine	intestine
21	chr3:191063600-191070800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:191064200-191069800	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:191064600-191072000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:191065400-191068200	Enhancers	Colon Smooth Muscle	Colon
25	chr3:191065400-191068400	Weak transcription	Right Ventricle	heart
26	chr3:191065400-191071400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:191065600-191068200	Weak transcription	A549	lung
28	chr3:191066600-191068200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:191066600-191068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:191066600-191071000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:191066800-191068600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:191067000-191068200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:191067000-191068200	Enhancers	Fetal Lung	lung
34	chr3:191067000-191069200	Weak transcription	Left Ventricle	heart
35	chr3:191067200-191069200	Weak transcription	Gastric	stomach
36	chr3:191067200-191069800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr3:191067400-191068200	Weak transcription	Ovary	ovary
38	chr3:191067400-191068600	Weak transcription	Psoas Muscle	Psoas
39	chr3:191067400-191071000	Enhancers	Liver	Liver
40	chr3:191067600-191070600	Enhancers	HepG2	liver
41	chr3:191067600-191070800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr3:191067600-191071600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:191067800-191068200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:191067800-191068200	Weak transcription	NHEK	skin
45	chr3:191067800-191068400	Enhancers	Rectal Smooth Muscle	rectum
46	chr3:191067800-191068800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:191067800-191069400	Flanking Active TSS	HUVEC	blood vessel
48	chr3:191067800-191070800	Enhancers	Fetal Heart	heart
49	chr3:191067800-191071000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr3:191067800-191071200	Enhancers	Muscle Satellite Cultured Cells	--

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