Variant report

Variant	rs6601286
Chromosome Location	chr8:8940035-8940036
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
2	chr8:8939297..8940892-chr8:9008509..9010684,2	K562	blood:
3	chr8:8935137..8938110-chr8:8938203..8940506,3	MCF-7	breast:
4	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:

Variant related genes	Relation type
ENSG00000253426	Chromatin interaction
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11774329	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17155176	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs17155179	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987277	1.00[CEU][hapmap];0.81[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7818455	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7825188	0.94[CEU][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv518456	chr8:8939125-8948469	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
2	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
3	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
4	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
5	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:8936000-8940400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:8936200-8940400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:8936400-8940400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:8937400-8940400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:8937400-8940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:8937400-8943400	Enhancers	Hela-S3	cervix
12	chr8:8937800-8940400	Enhancers	Small Intestine	intestine
13	chr8:8937800-8940800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:8937800-8940800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:8938000-8940400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:8938000-8940400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr8:8938000-8945200	Weak transcription	Placenta	Placenta
18	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:8938200-8940400	Enhancers	Duodenum Mucosa	Duodenum
20	chr8:8938200-8940400	Enhancers	Stomach Mucosa	stomach
21	chr8:8938400-8940400	Enhancers	Fetal Heart	heart
22	chr8:8938400-8945200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:8938400-8945200	Weak transcription	Primary B cells from cord blood	blood
24	chr8:8938400-8945200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:8938600-8940400	Enhancers	NHEK	skin
26	chr8:8938800-8940400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:8938800-8940400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:8938800-8940400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:8939000-8940400	Enhancers	HMEC	breast
30	chr8:8939000-8940400	Enhancers	Osteobl	bone
31	chr8:8939200-8940400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr8:8939200-8940400	Enhancers	Adipose Nuclei	Adipose
33	chr8:8939200-8940600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:8939400-8940200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:8939400-8940200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:8939400-8940200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:8939400-8940200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:8939400-8940200	Flanking Active TSS	A549	lung
39	chr8:8939400-8940200	Flanking Active TSS	K562	blood
40	chr8:8939400-8940200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:8939400-8940400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:8939400-8940400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:8939400-8940400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:8939400-8940400	Enhancers	HSMM	muscle
45	chr8:8939400-8940400	Flanking Active TSS	HUVEC	blood vessel
46	chr8:8939400-8940800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:8939600-8940200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:8939600-8940200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr8:8939600-8940200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr8:8939600-8940200	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links