Variant report

Variant	rs6709304
Chromosome Location	chr2:113005669-113005670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113001621..113004129-chr2:113004849..113007814,3	MCF-7	breast:
2	chr2:113005402..113007381-chr2:113358555..113361343,2	K562	blood:
3	chr2:113003810..113005815-chr2:113009554..113011676,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28579271	1.00[AMR][1000 genomes]
rs55798617	0.94[AFR][1000 genomes]
rs6725166	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6731628	0.81[AFR][1000 genomes]
rs6734458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7604747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1805614	chr2:112949713-113048705	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112961000-113009000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:112968000-113011800	Weak transcription	Right Ventricle	heart
3	chr2:112968200-113009200	Weak transcription	Small Intestine	intestine
4	chr2:112968200-113012000	Weak transcription	Pancreas	Pancrea
5	chr2:112968800-113011400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:112968800-113011800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:112969400-113011800	Weak transcription	Esophagus	oesophagus
8	chr2:112969600-113009000	Weak transcription	Psoas Muscle	Psoas
9	chr2:112970800-113011600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:112971400-113011600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:112971800-113011800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:112978200-113006400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:112979600-113011600	Weak transcription	Fetal Kidney	kidney
14	chr2:112979600-113012000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:112980000-113011800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:112980200-113011600	Weak transcription	HSMM	muscle
17	chr2:112987200-113010800	Weak transcription	NH-A	brain
18	chr2:112987200-113011000	Weak transcription	NHDF-Ad	bronchial
19	chr2:112987400-113011400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:112987800-113011000	Weak transcription	NHEK	skin
21	chr2:112987800-113011800	Weak transcription	NHLF	lung
22	chr2:112988400-113011600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:112990800-113009200	Weak transcription	Hela-S3	cervix
24	chr2:112992200-113011400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:112992200-113011800	Weak transcription	HSMMtube	muscle
26	chr2:112993000-113011000	Weak transcription	HMEC	breast
27	chr2:112993400-113011000	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:112994600-113008800	Weak transcription	Spleen	Spleen
29	chr2:112994600-113011800	Weak transcription	Colonic Mucosa	Colon
30	chr2:112997600-113007000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:112998800-113005800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:112999000-113006800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:112999200-113007000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:112999200-113007600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:112999800-113008800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:113000600-113008400	Strong transcription	Fetal Thymus	thymus
37	chr2:113000800-113007600	Weak transcription	K562	blood
38	chr2:113000800-113009400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:113000800-113009600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:113001000-113008600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:113001200-113011400	Weak transcription	HUVEC	blood vessel
42	chr2:113002000-113008400	Strong transcription	Dnd41	blood
43	chr2:113002200-113006800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:113002200-113007000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:113002200-113007400	Strong transcription	Primary T cells from cord blood	blood
46	chr2:113002400-113007200	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:113002600-113006800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:113002800-113008000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:113003000-113007000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:113003000-113007000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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