Variant report

Variant	rs11868625
Chromosome Location	chr17:17992317-17992318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17991360..17993195-chr17:18000519..18002843,2	MCF-7	breast:
2	chr17:17991646..17993233-chr17:17995608..17997950,2	K562	blood:
3	chr17:17968674..17971093-chr17:17991115..17992806,2	K562	blood:
4	chr17:17941361..17944192-chr17:17991166..17993409,5	K562	blood:
5	chr17:17989884..17994353-chr17:18008301..18011863,4	MCF-7	breast:
6	chr17:17991589..17993318-chr17:18013576..18015292,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108591	Chromatin interaction
ENSG00000171953	Chromatin interaction
ENSG00000141034	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006770	1.00[AMR][1000 genomes]
rs2230317	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4997327	1.00[AMR][1000 genomes]
rs7214844	1.00[AMR][1000 genomes]
rs8072048	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' 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	116 gene(s)	inside rSNPs	diseases
4	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17990600-17992400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:17990600-17992400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:17990600-17992400	Flanking Active TSS	Fetal Muscle Trunk	muscle
4	chr17:17990600-17992400	Active TSS	HSMM	muscle
5	chr17:17990800-17992400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:17990800-17992400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr17:17990800-17992400	Active TSS	Fetal Kidney	kidney
8	chr17:17990800-17992800	Active TSS	GM12878-XiMat	blood
9	chr17:17991400-17992400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:17991400-17992400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:17991400-17992400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr17:17991400-17992400	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr17:17991400-17992400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr17:17991400-17992400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr17:17991400-17992400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr17:17991400-17992600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:17991600-17992400	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr17:17991600-17992400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr17:17991600-17992400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:17991600-17992400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr17:17991600-17992400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr17:17991600-17992400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr17:17991600-17992400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr17:17991600-17992400	Flanking Active TSS	Liver	Liver
25	chr17:17991600-17992400	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr17:17991600-17992400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr17:17991600-17992400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr17:17991600-17992400	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr17:17991600-17992400	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr17:17991600-17992400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr17:17991600-17992400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr17:17991600-17992400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr17:17991600-17992400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr17:17991600-17992400	Flanking Active TSS	HMEC	breast
35	chr17:17991600-17992400	Flanking Active TSS	HUVEC	blood vessel
36	chr17:17991600-17992400	Flanking Active TSS	NH-A	brain
37	chr17:17991600-17992400	Flanking Active TSS	Osteobl	bone
38	chr17:17991600-17992600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:17991600-17993000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:17991800-17992400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:17991800-17992400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr17:17991800-17992400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:17991800-17992400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr17:17991800-17992400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:17991800-17992400	Flanking Active TSS	Fetal Lung	lung
46	chr17:17991800-17992400	Flanking Active TSS	Dnd41	blood
47	chr17:17991800-17992400	Flanking Active TSS	Hela-S3	cervix
48	chr17:17991800-17992400	Flanking Active TSS	K562	blood
49	chr17:17991800-17992400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr17:17991800-17992400	Flanking Active TSS	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links