Variant report

Variant	rs908292
Chromosome Location	chr2:9940350-9940351
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9939775..9940459-chr2:9953750..9954369,2	MCF-7	breast:
2	chr2:9939689..9943559-chr2:10181776..10185625,4	K562	blood:
3	chr2:9937659..9941164-chr2:10094129..10096263,3	MCF-7	breast:
4	chr2:9940223..9941926-chr2:10166212..10168564,2	MCF-7	breast:
5	chr2:9939957..9940480-chr2:10575114..10575696,2	K562	blood:
6	chr2:9939277..9941879-chr2:9968461..9972329,3	K562	blood:
7	chr2:9938587..9941859-chr2:10090007..10092310,3	MCF-7	breast:
8	chr2:9939670..9940467-chr2:9953617..9954536,3	K562	blood:
9	chr2:9939512..9940829-chr2:10188327..10189449,5	MCF-7	breast:
10	chr2:9939991..9942900-chr2:10036080..10038755,2	MCF-7	breast:
11	chr2:9939649..9941498-chr2:10185709..10187949,2	K562	blood:
12	chr2:9937501..9941480-chr2:10089757..10093591,7	MCF-7	breast:
13	chr2:9695356..9697993-chr2:9939467..9941106,2	K562	blood:
14	chr2:9940189..9942989-chr2:10049056..10050927,2	MCF-7	breast:
15	chr2:9908911..9912003-chr2:9940246..9943048,3	MCF-7	breast:
16	chr2:9937709..9940451-chr2:10113926..10116803,3	MCF-7	breast:
17	chr2:9939247..9940441-chr2:10212805..10213455,3	K562	blood:
18	chr2:9939520..9941287-chr2:10187476..10189009,2	MCF-7	breast:
19	chr2:9938188..9943513-chr2:9981101..9985006,11	MCF-7	breast:
20	chr2:9910212..9911110-chr2:9939462..9940413,3	MCF-7	breast:
21	chr2:9940167..9943661-chr2:10053697..10057580,3	MCF-7	breast:
22	chr2:9940003..9944697-chr2:9981835..9986230,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000243491	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495567	1.00[CHB][hapmap]
rs11676974	1.00[CHB][hapmap]
rs1515325	0.90[ASN][1000 genomes]
rs2049431	1.00[CHB][hapmap]
rs4669465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669466	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6726339	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559653	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv873621	chr2:9924387-9954598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv517701	chr2:9933956-9954768	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
2	chr2:9934200-9941200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:9934200-9941600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:9936600-9943800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:9937200-9943800	Enhancers	Esophagus	oesophagus
6	chr2:9937200-9944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:9937200-9944200	Enhancers	Fetal Intestine Small	intestine
8	chr2:9937600-9941000	Enhancers	HMEC	breast
9	chr2:9937800-9940600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:9937800-9943800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:9938200-9941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:9938400-9941200	Enhancers	Stomach Mucosa	stomach
13	chr2:9938400-9941600	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:9938400-9941800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:9938600-9940600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:9938600-9940800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:9938800-9940400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:9938800-9940600	Enhancers	Lung	lung
19	chr2:9938800-9942000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:9938800-9942200	Enhancers	Fetal Thymus	thymus
21	chr2:9938800-9943600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:9939000-9943200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:9939200-9940400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:9939200-9940400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:9939400-9941000	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:9939400-9941600	Enhancers	Right Ventricle	heart
27	chr2:9939400-9942000	Enhancers	Left Ventricle	heart
28	chr2:9939400-9943800	Enhancers	Fetal Muscle Leg	muscle
29	chr2:9939600-9940400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:9939600-9940400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:9939600-9940400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:9939600-9940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:9939600-9940400	Enhancers	Colon Smooth Muscle	Colon
34	chr2:9939600-9940400	Enhancers	Right Atrium	heart
35	chr2:9939600-9941000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:9939600-9941000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:9939600-9941400	Enhancers	HSMM	muscle
38	chr2:9939600-9941800	Enhancers	A549	lung
39	chr2:9939600-9942000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr2:9939600-9942200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:9939600-9942200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr2:9939600-9944000	Enhancers	Adipose Nuclei	Adipose
43	chr2:9939800-9940400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:9939800-9940400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:9939800-9940400	Bivalent Enhancer	Fetal Stomach	stomach
46	chr2:9939800-9940400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr2:9939800-9940400	Enhancers	Dnd41	blood
48	chr2:9939800-9940600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:9939800-9940600	Flanking Active TSS	HepG2	liver
50	chr2:9939800-9940800	Enhancers	Brain Hippocampus Middle	brain

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