Variant report

Variant	rs56006000
Chromosome Location	chr17:37393677-37393678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37392376..37395976-chr17:37399419..37404375,4	K562	blood:
2	chr17:37355660..37358428-chr17:37392056..37395361,4	MCF-7	breast:
3	chr17:37392769..37394395-chr17:44952247..44954407,2	MCF-7	breast:
4	chr17:37393657..37395976-chr17:37399419..37401926,2	K562	blood:

Variant related genes	Relation type
ENSG00000265460	Chromatin interaction
ENSG00000108298	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55771778	1.00[AFR][1000 genomes]
rs56283957	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72823393	0.81[EUR][1000 genomes]
rs72825130	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8067587	0.85[EUR][1000 genomes]
rs8080963	1.00[AFR][1000 genomes]

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	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv908203	chr17:37327165-37405657	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
10	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
11	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37388400-37394600	Weak transcription	Gastric	stomach
2	chr17:37388400-37394600	Weak transcription	Psoas Muscle	Psoas
3	chr17:37388400-37395000	Weak transcription	GM12878-XiMat	blood
4	chr17:37388400-37396000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:37388600-37394200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr17:37388600-37394400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr17:37388600-37394600	Weak transcription	Pancreas	Pancrea
8	chr17:37388800-37394200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:37388800-37396200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr17:37388800-37396200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:37389000-37394000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:37389000-37394800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:37391200-37395800	Weak transcription	Right Atrium	heart
14	chr17:37391400-37394400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr17:37391400-37396400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr17:37391800-37394400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr17:37391800-37394400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr17:37391800-37394400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:37391800-37394400	Enhancers	Hela-S3	cervix
20	chr17:37391800-37394600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr17:37391800-37394600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr17:37391800-37394600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr17:37391800-37394800	Enhancers	A549	lung
24	chr17:37392000-37394400	Weak transcription	Thymus	Thymus
25	chr17:37392000-37395800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr17:37392000-37396000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:37392200-37393800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:37392200-37394400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr17:37392200-37396000	Weak transcription	Fetal Thymus	thymus
30	chr17:37392400-37393800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:37392400-37394000	Weak transcription	Dnd41	blood
32	chr17:37392400-37394400	Weak transcription	Fetal Lung	lung
33	chr17:37392400-37394600	Weak transcription	HMEC	breast
34	chr17:37392400-37395600	Weak transcription	K562	blood
35	chr17:37392600-37393800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:37392600-37393800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr17:37392600-37394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:37392800-37393800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr17:37392800-37395200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:37393000-37394400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr17:37393000-37394400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:37393000-37394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:37393200-37394000	Enhancers	Fetal Intestine Large	intestine
44	chr17:37393400-37394600	Weak transcription	Esophagus	oesophagus
45	chr17:37393600-37394000	Enhancers	Fetal Intestine Small	intestine
46	chr17:37393600-37394600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:37393600-37394600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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