Variant report

Variant	rs3105098
Chromosome Location	chr2:95698210-95698211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95685422..95688224-chr2:95697478..95700182,2	MCF-7	breast:
2	chr2:95689088..95690654-chr2:95696466..95698552,2	MCF-7	breast:
3	chr2:95687297..95689226-chr2:95697033..95698972,2	K562	blood:
4	chr2:95698116..95699880-chr2:95712776..95715157,2	K562	blood:
5	chr2:95694534..95696982-chr2:95697891..95700587,2	K562	blood:
6	chr2:95694636..95698537-chr2:95698705..95703366,6	MCF-7	breast:
7	chr2:95696433..95699551-chr2:95717063..95720661,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231062	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17119148	0.82[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1875402	0.80[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2291991	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2320619	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2320620	0.81[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3105099	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3105100	0.81[AMR][1000 genomes]
rs3105101	0.82[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3105104	0.80[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs3105105	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3112225	0.82[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs3112228	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3112230	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3112982	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112983	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112984	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112985	0.80[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3112986	0.80[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3112987	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3112995	0.82[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3112996	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3112997	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3113002	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4241315	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4854241	0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4854243	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62637956	0.80[ASN][1000 genomes]
rs6723333	0.81[AMR][1000 genomes]
rs6725821	0.80[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap]
rs7560571	0.91[CHB][hapmap]
rs7565772	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7582368	0.85[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7585473	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs872580	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95692600-95702200	Weak transcription	Pancreas	Pancrea
2	chr2:95693400-95698600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:95693400-95706400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:95693600-95702400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr2:95694000-95701400	Genic enhancers	Fetal Thymus	thymus
6	chr2:95694000-95703000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:95694200-95698600	Enhancers	Brain Anterior Caudate	brain
8	chr2:95695200-95698400	Genic enhancers	Thymus	Thymus
9	chr2:95695200-95700200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr2:95695200-95703800	Enhancers	Brain Angular Gyrus	brain
11	chr2:95695400-95699600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:95695800-95698400	Enhancers	Esophagus	oesophagus
13	chr2:95695800-95698400	Enhancers	Placenta	Placenta
14	chr2:95695800-95698600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:95696000-95700000	Enhancers	Brain Hippocampus Middle	brain
16	chr2:95696000-95700600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:95696000-95706800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:95696200-95699600	Weak transcription	Dnd41	blood
19	chr2:95696200-95700800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:95696400-95701400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:95696400-95702200	Weak transcription	Gastric	stomach
22	chr2:95696600-95699800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:95696800-95702000	Weak transcription	Fetal Kidney	kidney
24	chr2:95697000-95700200	Weak transcription	GM12878-XiMat	blood
25	chr2:95697200-95699400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:95697200-95699400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:95697600-95699600	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr2:95697600-95699600	Weak transcription	HSMMtube	muscle
29	chr2:95697800-95698600	Enhancers	Spleen	Spleen
30	chr2:95697800-95699000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:95697800-95700000	Strong transcription	Primary T cells from cord blood	blood
32	chr2:95698000-95698400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:95698000-95698400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr2:95698000-95698800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:95698200-95699000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:95698200-95699400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:95698200-95700000	Genic enhancers	Brain Cingulate Gyrus	brain

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