Variant report

Variant	rs2622268
Chromosome Location	chr9:116376455-116376456
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116375318..116378265-chr9:116400477..116402122,2	K562	blood:
2	chr9:116356309..116357937-chr9:116375558..116377978,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12341266	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1411672	0.84[AMR][1000 genomes]
rs1679671	0.88[EUR][1000 genomes]
rs2039224	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2622265	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2622269	0.84[AMR][1000 genomes]
rs2812397	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4548257	0.89[EUR][1000 genomes]
rs4582632	0.84[AMR][1000 genomes]
rs4979259	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs589248	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs590963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs591354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6478026	0.84[AMR][1000 genomes]
rs659498	0.84[AMR][1000 genomes]
rs785101	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription 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 target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
3	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv615218	chr9:116365126-116391069	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3330945	chr9:116374331-116378629	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv466511	chr9:116374990-116397397	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv615219	chr9:116374990-116397397	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116371200-116377800	Weak transcription	Esophagus	oesophagus
2	chr9:116371200-116380200	Enhancers	Fetal Muscle Leg	muscle
3	chr9:116371800-116377600	Enhancers	Adipose Nuclei	Adipose
4	chr9:116371800-116379400	Enhancers	Left Ventricle	heart
5	chr9:116372200-116376800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:116372200-116377000	Weak transcription	Fetal Intestine Large	intestine
7	chr9:116372400-116376800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:116372400-116376800	Weak transcription	Fetal Intestine Small	intestine
9	chr9:116372400-116377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:116372400-116377000	Weak transcription	HMEC	breast
11	chr9:116372600-116376800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:116372600-116376800	Weak transcription	Osteobl	bone
13	chr9:116372600-116377000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:116372600-116377200	Weak transcription	Brain Anterior Caudate	brain
15	chr9:116372800-116376600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:116372800-116376600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:116372800-116379400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:116373200-116376600	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:116373200-116376800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:116373200-116377400	Weak transcription	Psoas Muscle	Psoas
21	chr9:116373400-116377000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:116373400-116377000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:116373600-116376600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:116373600-116378400	Enhancers	Fetal Muscle Trunk	muscle
25	chr9:116373600-116379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:116373600-116382400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:116373800-116379400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:116373800-116379600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:116373800-116380000	Enhancers	Spleen	Spleen
30	chr9:116374000-116377200	Weak transcription	HUVEC	blood vessel
31	chr9:116374000-116377400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:116374400-116377000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:116375200-116376800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:116375200-116379800	Enhancers	Right Ventricle	heart
35	chr9:116375600-116378200	Enhancers	HSMM	muscle
36	chr9:116375600-116382400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr9:116375800-116377000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:116375800-116379400	Enhancers	Lung	lung
39	chr9:116376200-116376600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:116376200-116376800	Active TSS	Fetal Brain Male	brain
41	chr9:116376200-116376800	Flanking Active TSS	Fetal Lung	lung
42	chr9:116376200-116376800	Enhancers	NHDF-Ad	bronchial
43	chr9:116376200-116377000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr9:116376200-116377200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:116376200-116377800	Enhancers	Fetal Kidney	kidney
46	chr9:116376200-116377800	Enhancers	Rectal Smooth Muscle	rectum
47	chr9:116376200-116378000	Enhancers	Colon Smooth Muscle	Colon
48	chr9:116376200-116378000	Enhancers	Gastric	stomach
49	chr9:116376200-116378000	Enhancers	Pancreas	Pancrea
50	chr9:116376200-116378200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links