Variant report

Variant	rs6686659
Chromosome Location	chr1:174175879-174175880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174126473..174129407-chr1:174172803..174176660,7	K562	blood:
2	chr1:174040693..174043497-chr1:174175491..174177375,2	K562	blood:
3	chr1:174159869..174162419-chr1:174173364..174176167,2	K562	blood:
4	chr1:173792385..173795057-chr1:174174691..174177146,2	K562	blood:

Variant related genes	Relation type
ENSG00000152061	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58700482	1.00[EUR][1000 genomes]
rs61738616	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425269	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677446	1.00[EUR][1000 genomes]
rs7522580	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr1:174144000-174178200	Weak transcription	Left Ventricle	heart
2	chr1:174160800-174186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:174161000-174176200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:174161200-174176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:174161600-174178600	Weak transcription	Primary B cells from cord blood	blood
6	chr1:174162000-174189600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:174163800-174178200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:174167200-174178400	Weak transcription	Fetal Stomach	stomach
9	chr1:174170800-174178000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:174172200-174179800	ZNF genes & repeats	GM12878-XiMat	blood
11	chr1:174172800-174190600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:174172800-174191000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:174173000-174176400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:174173200-174191400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:174173400-174176000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:174173400-174176000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:174173400-174176000	Flanking Active TSS	K562	blood
18	chr1:174173600-174176000	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:174173600-174176000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:174173600-174176200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:174173600-174176800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:174174000-174186200	Weak transcription	Ovary	ovary
23	chr1:174174200-174180200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:174174200-174200200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:174174400-174176400	Weak transcription	Psoas Muscle	Psoas
26	chr1:174174400-174178600	Weak transcription	Dnd41	blood
27	chr1:174175000-174176000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:174175000-174176000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:174175200-174176000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:174175400-174176000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:174175400-174176000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:174175400-174176000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:174175400-174176000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:174175400-174200200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:174175600-174176000	Enhancers	Primary T cells from cord blood	blood
36	chr1:174175600-174176000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:174175600-174176000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr1:174175600-174176000	Enhancers	HSMM	muscle
39	chr1:174175600-174176200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr1:174175600-174176600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:174175600-174176600	Enhancers	NHEK	skin
42	chr1:174175800-174176000	Flanking Active TSS	Fetal Heart	heart
43	chr1:174175800-174176000	Enhancers	Skeletal Muscle Male	skeletal muscle

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