Variant report

Variant	rs6984402
Chromosome Location	chr8:66738896-66738897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66737791..66740122-chr8:66753290..66754804,2	K562	blood:
2	chr8:66738610..66741881-chr8:66752808..66756007,3	MCF-7	breast:
3	chr8:66737036..66739484-chr8:66752919..66754765,2	K562	blood:

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10504392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1316700	0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs58175788	0.81[AMR][1000 genomes]
rs59198392	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62507653	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6472221	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6472224	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472228	0.83[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66537647	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66609388	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67813477	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72666552	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7839014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6984402	MTFR1	cis	cerebellum	SCAN
rs6984402	MTFR1	Cis_1M	lymphoblastoid	RTeQTL
rs6984402	PDE7A	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66719400-66750000	Weak transcription	Hela-S3	cervix
2	chr8:66720400-66744800	Weak transcription	NHEK	skin
3	chr8:66725200-66742000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:66725200-66747000	Weak transcription	NHDF-Ad	bronchial
5	chr8:66725400-66742000	Weak transcription	HMEC	breast
6	chr8:66725400-66751200	Weak transcription	Fetal Heart	heart
7	chr8:66729000-66744800	Weak transcription	Gastric	stomach
8	chr8:66729400-66744800	Weak transcription	Spleen	Spleen
9	chr8:66729400-66749400	Weak transcription	Fetal Brain Male	brain
10	chr8:66730000-66741400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:66730000-66741600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:66731000-66752600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:66731400-66741000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:66731600-66740000	Weak transcription	A549	lung
15	chr8:66731600-66741400	Weak transcription	Fetal Stomach	stomach
16	chr8:66731600-66752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:66731800-66752600	Weak transcription	Adipose Nuclei	Adipose
18	chr8:66732200-66741400	Weak transcription	Fetal Intestine Large	intestine
19	chr8:66732400-66739200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:66732400-66745000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:66732400-66745000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:66732600-66739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:66732600-66751000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:66732600-66751000	Weak transcription	Fetal Lung	lung
25	chr8:66733000-66752000	Weak transcription	Fetal Intestine Small	intestine
26	chr8:66733400-66743800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:66734200-66742800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr8:66734400-66740200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:66734800-66740600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:66734800-66742000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:66734800-66749000	Weak transcription	Small Intestine	intestine
32	chr8:66734800-66752600	Weak transcription	Left Ventricle	heart
33	chr8:66735000-66746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:66735000-66746600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:66735200-66741800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:66736000-66740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:66736200-66741800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:66736400-66739600	Strong transcription	Fetal Thymus	thymus
39	chr8:66736600-66741000	ZNF genes & repeats	GM12878-XiMat	blood
40	chr8:66737000-66739000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:66737000-66742000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:66737400-66739200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:66737600-66739400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:66737600-66740000	Strong transcription	Primary B cells from cord blood	blood
45	chr8:66737800-66739200	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr8:66737800-66740000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:66738000-66739000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:66738000-66739000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:66738000-66739200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:66738000-66739400	Enhancers	H1 Cell Line	embryonic stem cell

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