Variant report

Variant	rs57817164
Chromosome Location	chr11:5696798-5696799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:5694357..5697480-chr11:5700986..5703553,3	K562	blood:
2	chr11:5695837..5697480-chr11:5700986..5703553,2	K562	blood:
3	chr11:5694891..5696823-chr11:5706070..5707915,2	K562	blood:

Variant related genes	Relation type
ENSG00000132256	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1498554	1.00[EUR][1000 genomes]
rs16934317	1.00[EUR][1000 genomes]
rs28693624	1.00[EUR][1000 genomes]
rs57856328	1.00[EUR][1000 genomes]
rs58371000	1.00[EUR][1000 genomes]
rs59253967	1.00[EUR][1000 genomes]
rs59496074	1.00[EUR][1000 genomes]
rs73400351	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
2	chr11:5664000-5699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:5666400-5699400	Weak transcription	Left Ventricle	heart
4	chr11:5674800-5705400	Weak transcription	Psoas Muscle	Psoas
5	chr11:5676000-5699400	Weak transcription	Pancreas	Pancrea
6	chr11:5678000-5699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:5681400-5699400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:5681600-5699400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:5682800-5696800	Strong transcription	Liver	Liver
10	chr11:5683800-5696800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:5683800-5696800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:5684000-5700000	Weak transcription	Right Ventricle	heart
13	chr11:5684000-5705400	Weak transcription	Brain Substantia Nigra	brain
14	chr11:5684200-5705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:5684400-5698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:5684600-5699200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:5684600-5699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:5684600-5703600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:5684800-5699200	Weak transcription	Brain Anterior Caudate	brain
20	chr11:5684800-5699400	Weak transcription	NHDF-Ad	bronchial
21	chr11:5685000-5696800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:5685200-5696800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:5685200-5699200	Weak transcription	HepG2	liver
24	chr11:5685400-5705400	Weak transcription	Stomach Mucosa	stomach
25	chr11:5686200-5699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:5686800-5699000	Weak transcription	NHLF	lung
27	chr11:5687200-5699000	Weak transcription	K562	blood
28	chr11:5687200-5699400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:5687200-5699400	Weak transcription	Small Intestine	intestine
30	chr11:5687200-5699400	Weak transcription	HMEC	breast
31	chr11:5687400-5698800	Weak transcription	HSMMtube	muscle
32	chr11:5687600-5699000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:5687600-5699400	Weak transcription	NHEK	skin
34	chr11:5687800-5699600	Weak transcription	Fetal Heart	heart
35	chr11:5688000-5698800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:5688000-5705600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:5688200-5698800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:5688600-5698800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:5689200-5699000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:5691000-5698800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:5691000-5699000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:5691000-5705000	Weak transcription	Hela-S3	cervix
43	chr11:5691000-5705400	Weak transcription	Fetal Brain Male	brain
44	chr11:5691200-5698800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:5691200-5698800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:5691200-5698800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:5691200-5698800	Weak transcription	HUVEC	blood vessel
48	chr11:5691200-5699000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:5691200-5699000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:5691400-5699200	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links