Variant report

Variant	rs6685607
Chromosome Location	chr1:150134341-150134342
allele	A/G
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150059899..150062299-chr1:150132296..150134996,2	K562	blood:
2	chr1:149854392..149861957-chr1:150131544..150142194,21	K562	blood:
3	chr1:149852970..149861957-chr1:150133189..150142962,24	K562	blood:
4	chr1:150045026..150046248-chr1:150134083..150135043,5	MCF-7	breast:
5	chr1:150133635..150136793-chr1:150204165..150209433,5	K562	blood:
6	chr1:149909348..149911287-chr1:150133137..150136062,3	MCF-7	breast:
7	chr1:150134055..150139099-chr1:150139132..150143915,8	K562	blood:
8	chr1:150053878..150056671-chr1:150132112..150134683,2	MCF-7	breast:
9	chr1:150037224..150041771-chr1:150132970..150138750,9	MCF-7	breast:
10	chr1:150035483..150047454-chr1:150129931..150138567,28	MCF-7	breast:
11	chr1:149814399..149818265-chr1:150133818..150137091,5	MCF-7	breast:
12	chr1:149854077..149861961-chr1:150131511..150145996,30	MCF-7	breast:
13	chr1:150133945..150135977-chr1:150153279..150155573,2	K562	blood:
14	chr1:150089379..150091051-chr1:150132351..150134361,2	K562	blood:
15	chr1:150110150..150112149-chr1:150133607..150135981,2	K562	blood:
16	chr1:150134189..150134914-chr8:25653125..25653625,2	MCF-7	breast:
17	chr1:149856989..149863100-chr1:150133834..150145484,23	MCF-7	breast:
18	chr1:150133612..150139451-chr1:150205752..150208601,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272993	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1382572	1.00[MEX][hapmap]
rs14654	1.00[MEX][hapmap]
rs16835865	1.00[MEX][hapmap]
rs6688983	1.00[AMR][1000 genomes]
rs942451	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv535152	chr1:150120726-150143089	Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150123200-150135400	Weak transcription	A549	lung
2	chr1:150123400-150134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:150123400-150134400	Weak transcription	NHEK	skin
4	chr1:150123800-150134600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:150129800-150134600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:150130200-150134600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:150130200-150134600	Weak transcription	Psoas Muscle	Psoas
8	chr1:150131200-150134400	Weak transcription	HepG2	liver
9	chr1:150131400-150134600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:150131600-150135000	Enhancers	Ovary	ovary
11	chr1:150131800-150135400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:150131800-150135600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:150131800-150135800	Weak transcription	Esophagus	oesophagus
14	chr1:150131800-150136000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:150131800-150138600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:150132000-150134800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:150132000-150136000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:150132200-150134400	Weak transcription	Liver	Liver
19	chr1:150132200-150135000	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:150132200-150135800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:150132200-150135800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:150132200-150136200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:150132200-150136200	Enhancers	HUVEC	blood vessel
24	chr1:150132200-150136400	Enhancers	Placenta	Placenta
25	chr1:150132200-150136800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:150132400-150134400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:150132400-150134600	Enhancers	Primary T cells from cord blood	blood
28	chr1:150132400-150134600	Weak transcription	Aorta	Aorta
29	chr1:150132400-150135600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:150132400-150136200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:150132400-150138200	Weak transcription	Gastric	stomach
32	chr1:150132400-150141200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:150132600-150134400	Weak transcription	Left Ventricle	heart
34	chr1:150132800-150134400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:150132800-150134400	Enhancers	K562	blood
36	chr1:150132800-150134600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:150132800-150134800	Enhancers	NHDF-Ad	bronchial
38	chr1:150132800-150135400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr1:150132800-150135400	Flanking Active TSS	GM12878-XiMat	blood
40	chr1:150132800-150136200	Enhancers	Small Intestine	intestine
41	chr1:150132800-150136400	Enhancers	Spleen	Spleen
42	chr1:150132800-150138400	Enhancers	Fetal Heart	heart
43	chr1:150133000-150134400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:150133000-150134600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:150133000-150134600	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:150133000-150134600	Enhancers	Fetal Kidney	kidney
47	chr1:150133000-150134600	Weak transcription	Thymus	Thymus
48	chr1:150133000-150134800	Enhancers	Brain Hippocampus Middle	brain
49	chr1:150133000-150135600	Enhancers	Colonic Mucosa	Colon
50	chr1:150133000-150136000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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