Variant report

Variant	rs6692607
Chromosome Location	chr1:85049565-85049566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85038375..85040113-chr1:85048931..85050517,2	MCF-7	breast:
2	chr1:85039285..85040851-chr1:85047957..85050303,2	K562	blood:
3	chr1:85038924..85041180-chr1:85047534..85050087,3	K562	blood:
4	chr1:85047686..85049603-chr1:85052404..85054227,2	MCF-7	breast:
5	chr1:84967877..84970067-chr1:85047454..85049794,2	K562	blood:
6	chr1:84967877..84971482-chr1:85048294..85051877,3	K562	blood:

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11164009	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12084159	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17112268	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2138169	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57674741	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58537059	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6657708	0.89[AMR][1000 genomes]
rs6679620	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6681870	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7533783	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85041000-85051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:85043000-85050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:85044200-85050800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:85047400-85049600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85048200-85049600	Enhancers	Primary B cells from cord blood	blood
6	chr1:85048400-85049800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:85048400-85050000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:85048400-85050400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:85048400-85050400	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:85048400-85050400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:85048600-85049600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:85048600-85049600	Enhancers	Right Atrium	heart
13	chr1:85048600-85049600	Flanking Active TSS	K562	blood
14	chr1:85048600-85050000	Enhancers	Fetal Brain Male	brain
15	chr1:85048600-85050000	Enhancers	Left Ventricle	heart
16	chr1:85048600-85050200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:85048600-85050200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:85048600-85050200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:85048600-85050200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:85048600-85050200	Enhancers	GM12878-XiMat	blood
21	chr1:85048600-85050400	Enhancers	Fetal Brain Female	brain
22	chr1:85048800-85049600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:85048800-85050400	Enhancers	Fetal Kidney	kidney
24	chr1:85049000-85049600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:85049000-85049600	Enhancers	Adipose Nuclei	Adipose
26	chr1:85049000-85049600	Enhancers	Fetal Intestine Large	intestine
27	chr1:85049000-85049600	Enhancers	NHLF	lung
28	chr1:85049000-85049800	Enhancers	NH-A	brain
29	chr1:85049000-85050400	Enhancers	Brain Germinal Matrix	brain
30	chr1:85049200-85049600	Enhancers	Hela-S3	cervix
31	chr1:85049200-85049800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:85049200-85050000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:85049200-85050000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:85049200-85050000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:85049200-85050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:85049200-85050400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:85049200-85053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:85049400-85049600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:85049400-85049600	Active TSS	HepG2	liver
40	chr1:85049400-85049800	Enhancers	Fetal Intestine Small	intestine
41	chr1:85049400-85050000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:85049400-85050000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
43	chr1:85049400-85050000	Enhancers	Spleen	Spleen

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