Variant report

Variant	rs7175978
Chromosome Location	chr15:44973788-44973789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44972400..44974819-chr15:44987674..44991422,3	K562	blood:
2	chr15:44956496..44959364-chr15:44973197..44975018,2	K562	blood:
3	chr15:44973131..44976189-chr15:45001686..45006924,6	K562	blood:
4	chr15:44973054..44976142-chr15:45003045..45006924,4	K562	blood:
5	chr15:44973043..44977333-chr15:45002300..45005147,5	MCF-7	breast:
6	chr15:44968284..44971243-chr15:44972420..44975115,3	K562	blood:
7	chr15:44967457..44971228-chr15:44972943..44975981,3	K562	blood:

Variant related genes	Relation type
ENSG00000206957	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000166710	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12594463	1.00[TSI][hapmap]
rs16964045	0.90[ASN][1000 genomes]
rs2288340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2291647	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412884	0.93[ASN][1000 genomes]
rs36093509	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3752690	0.88[JPT][hapmap]
rs3784568	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56719500	1.00[AMR][1000 genomes]
rs7170216	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7172726	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7173921	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176018	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8037681	0.93[ASN][1000 genomes]
rs8041448	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9806511	1.00[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS 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	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44959400-44974600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr15:44965800-44975800	Enhancers	Primary B cells from peripheral blood	blood
3	chr15:44969000-44974600	Weak transcription	Spleen	Spleen
4	chr15:44969000-44975000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:44969600-44974400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr15:44969600-44974600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:44969600-44975000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:44969600-44975200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr15:44969800-44974200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:44969800-44977000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr15:44969800-44977800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:44970000-44974000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr15:44970400-44974200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:44970600-44974200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr15:44970600-44974400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:44970600-44975000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:44970800-44974200	Enhancers	Primary T cells from cord blood	blood
18	chr15:44970800-44974600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:44971000-44974000	Weak transcription	Thymus	Thymus
20	chr15:44971000-44974400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:44971200-44974200	Weak transcription	GM12878-XiMat	blood
22	chr15:44971400-44973800	Weak transcription	Primary B cells from cord blood	blood
23	chr15:44971400-44974000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr15:44972200-44976000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:44972400-44974400	Weak transcription	Small Intestine	intestine
26	chr15:44972400-44974600	Weak transcription	Lung	lung
27	chr15:44972600-44974600	Weak transcription	Dnd41	blood
28	chr15:44972800-44973800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr15:44972800-44973800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:44972800-44973800	Weak transcription	Fetal Thymus	thymus
31	chr15:44973400-44973800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr15:44973400-44974600	Enhancers	K562	blood
33	chr15:44973400-44976200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:44973600-44974000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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