Variant report

Variant	rs2233917
Chromosome Location	chr9:116021183-116021184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116016494..116018131-chr9:116019825..116021408,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16928811	0.82[AFR][1000 genomes]
rs2233918	0.89[AFR][1000 genomes]
rs28619870	0.89[AFR][1000 genomes]
rs7032466	1.00[ASW][hapmap];0.81[LWK][hapmap];0.89[AFR][1000 genomes]
rs7034815	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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 target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv893746	chr9:115983540-116022826	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv982339	chr9:116020978-116021478	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115996000-116022200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr9:115996000-116031600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:115996200-116022400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr9:116008200-116037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:116009600-116029800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:116010200-116031800	Weak transcription	Fetal Heart	heart
7	chr9:116011400-116028800	Weak transcription	Fetal Kidney	kidney
8	chr9:116013400-116022200	Weak transcription	Gastric	stomach
9	chr9:116014400-116022200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:116016400-116022200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:116017000-116022200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:116017200-116022200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:116017200-116023000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:116017400-116023200	Strong transcription	HepG2	liver
15	chr9:116017400-116023600	Strong transcription	Fetal Intestine Small	intestine
16	chr9:116017400-116025800	Strong transcription	Fetal Muscle Leg	muscle
17	chr9:116017600-116026400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:116017600-116031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr9:116017800-116021200	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:116017800-116025200	Strong transcription	Left Ventricle	heart
21	chr9:116017800-116025400	Strong transcription	Fetal Brain Female	brain
22	chr9:116017800-116026400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:116018000-116021200	Strong transcription	K562	blood
24	chr9:116018000-116024600	Weak transcription	HMEC	breast
25	chr9:116018000-116025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:116018000-116027600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:116018200-116022200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr9:116018200-116024200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:116018200-116026200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:116018400-116022600	Strong transcription	NH-A	brain
31	chr9:116018400-116023000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr9:116018400-116024400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:116018400-116024600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr9:116018400-116024800	Strong transcription	NHEK	skin
35	chr9:116018400-116025200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:116018400-116026000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:116018600-116021400	Genic enhancers	Liver	Liver
38	chr9:116018600-116024800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:116018600-116024800	Strong transcription	Primary T cells from cord blood	blood
40	chr9:116018600-116026000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr9:116018600-116036000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr9:116018800-116022200	Weak transcription	Colonic Mucosa	Colon
43	chr9:116018800-116022200	Weak transcription	Right Ventricle	heart
44	chr9:116018800-116024400	Weak transcription	Fetal Lung	lung
45	chr9:116019000-116022200	Weak transcription	Brain Angular Gyrus	brain
46	chr9:116019000-116023200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:116019000-116025200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:116019000-116026000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:116019200-116022800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:116019200-116023200	Strong transcription	Brain Hippocampus Middle	brain

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