Variant report

Variant	rs375555
Chromosome Location	chr6:33557741-33557742
allele	C/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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33557311..33558097-chr6:33600135..33601024,5	MCF-7	breast:
2	chr6:33557463..33558024-chr6:33728236..33728791,2	K562	blood:
3	chr6:33555453..33558278-chr6:33607870..33609566,2	K562	blood:
4	chr6:33557167..33558102-chr6:33640434..33641022,2	MCF-7	breast:
5	chr6:33557569..33559223-chr6:33672789..33674425,2	K562	blood:
6	chr6:33557387..33558718-chr6:33670243..33670853,3	K562	blood:
7	chr6:33556084..33559190-chr6:33561463..33564085,3	K562	blood:
8	chr6:33556676..33558804-chr6:33667221..33669587,2	K562	blood:
9	chr6:33556929..33558055-chr6:33575240..33576451,8	MCF-7	breast:
10	chr6:33557128..33558070-chr6:33729670..33730677,6	K562	blood:
11	chr6:33555432..33562879-chr6:33670455..33680174,12	K562	blood:
12	chr6:33557445..33558321-chr6:33640204..33641251,4	MCF-7	breast:
13	chr6:33557115..33558665-chr6:33640289..33641376,5	K562	blood:
14	chr6:33556983..33559426-chr6:33569915..33571800,2	MCF-7	breast:
15	chr6:33557066..33558559-chr6:33667900..33669281,8	K562	blood:
16	chr6:33554633..33558061-chr6:33675915..33678804,3	MCF-7	breast:
17	chr6:33557315..33558057-chr6:33600224..33600962,3	K562	blood:
18	chr6:33557568..33558267-chr6:33586070..33586956,2	MCF-7	breast:
19	chr6:33557038..33558663-chr6:33565418..33568204,3	K562	blood:
20	chr6:33551039..33553771-chr6:33556676..33559187,3	MCF-7	breast:
21	chr6:33550971..33553641-chr6:33557216..33560603,4	K562	blood:
22	chr6:33557322..33558111-chr6:33667371..33668903,6	MCF-7	breast:
23	chr6:33556717..33560050-chr6:33586677..33588878,3	MCF-7	breast:
24	chr6:33557345..33558657-chr6:33600025..33600783,6	MCF-7	breast:
25	chr6:33557542..33558049-chr6:33667963..33668918,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000204188	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs210137	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.90[ASN][1000 genomes]
rs210138	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs210144	0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs210162	0.82[ASW][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs394199	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs407710	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713646	0.81[GIH][hapmap]
rs493871	0.91[CHD][hapmap]
rs530878	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs563751	0.95[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs6900408	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[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	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs375555	FANCE	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33548400-33557800	Weak transcription	Right Atrium	heart
2	chr6:33548600-33560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:33548800-33557800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:33553600-33558000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:33553800-33557800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:33553800-33557800	Weak transcription	Esophagus	oesophagus
7	chr6:33553800-33558400	Weak transcription	Gastric	stomach
8	chr6:33553800-33560400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:33554000-33557800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:33554000-33557800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:33554000-33557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:33554000-33558400	Weak transcription	Fetal Kidney	kidney
13	chr6:33554000-33560400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:33554000-33560400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:33554000-33560600	Weak transcription	Brain Angular Gyrus	brain
16	chr6:33554000-33560800	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:33554200-33557800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:33554200-33557800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:33554200-33560400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:33554200-33560600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:33554200-33560800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:33555800-33558800	Enhancers	Brain Anterior Caudate	brain
23	chr6:33555800-33561400	Enhancers	Spleen	Spleen
24	chr6:33556400-33557800	Enhancers	Psoas Muscle	Psoas
25	chr6:33556400-33558200	Enhancers	Fetal Intestine Small	intestine
26	chr6:33556400-33558200	Enhancers	Right Ventricle	heart
27	chr6:33556400-33559400	Enhancers	Fetal Muscle Trunk	muscle
28	chr6:33556400-33559400	Enhancers	Fetal Muscle Leg	muscle
29	chr6:33556400-33559600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:33556400-33559600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:33556600-33557800	Enhancers	Colonic Mucosa	Colon
32	chr6:33556600-33558000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:33556600-33559200	Enhancers	HUVEC	blood vessel
34	chr6:33556600-33559600	Enhancers	Pancreas	Pancrea
35	chr6:33556600-33560600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:33556600-33560600	Enhancers	Fetal Intestine Large	intestine
37	chr6:33556600-33561400	Enhancers	Lung	lung
38	chr6:33556800-33559600	Enhancers	Duodenum Mucosa	Duodenum
39	chr6:33556800-33559800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:33556800-33559800	Enhancers	Stomach Mucosa	stomach
41	chr6:33557000-33558400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:33557000-33558800	Enhancers	Fetal Stomach	stomach
43	chr6:33557000-33559000	Enhancers	Adipose Nuclei	Adipose
44	chr6:33557000-33559000	Enhancers	Stomach Smooth Muscle	stomach
45	chr6:33557000-33559200	Enhancers	Fetal Lung	lung
46	chr6:33557000-33559200	Enhancers	Ovary	ovary
47	chr6:33557000-33559200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr6:33557000-33559600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:33557000-33559600	Flanking Active TSS	HepG2	liver
50	chr6:33557000-33561400	Enhancers	HMEC	breast

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