Variant report

Variant	rs10930550
Chromosome Location	chr2:173205527-173205528
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs4484005	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4487062	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4552157	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4972502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972802	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6433351	0.82[CHB][hapmap]
rs6433354	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6716471	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6719962	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6729717	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6729987	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583083	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7594561	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173199600-173208000	Enhancers	Stomach Mucosa	stomach
2	chr2:173202400-173207200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:173203600-173208400	Enhancers	Fetal Intestine Large	intestine
4	chr2:173204000-173205600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:173204000-173205600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:173204000-173205600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:173204000-173205600	Enhancers	HSMM	muscle
8	chr2:173204000-173205800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:173204000-173205800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:173204000-173206200	Flanking Active TSS	HepG2	liver
11	chr2:173204200-173205600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:173204200-173205600	Active TSS	Rectal Smooth Muscle	rectum
13	chr2:173204200-173205600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:173204200-173205800	Enhancers	Adipose Nuclei	Adipose
15	chr2:173204200-173206000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:173204200-173206000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:173204200-173206200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:173204400-173205600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr2:173204400-173205800	Flanking Active TSS	Liver	Liver
20	chr2:173204400-173205800	Flanking Active TSS	NHEK	skin
21	chr2:173204600-173205600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:173204600-173205800	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:173204600-173206000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:173204600-173206000	Weak transcription	Ovary	ovary
25	chr2:173204600-173206800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:173204600-173206800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:173204600-173206800	Weak transcription	Colonic Mucosa	Colon
28	chr2:173204600-173206800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:173204600-173206800	Weak transcription	Gastric	stomach
30	chr2:173204600-173206800	Weak transcription	Lung	lung
31	chr2:173204600-173207000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:173204600-173207000	Weak transcription	Spleen	Spleen
33	chr2:173204600-173218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:173204800-173206000	Enhancers	HSMMtube	muscle
35	chr2:173204800-173206800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:173204800-173206800	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:173204800-173206800	Weak transcription	Pancreas	Pancrea
38	chr2:173204800-173206800	Weak transcription	Right Atrium	heart
39	chr2:173205000-173205600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:173205000-173205600	Enhancers	Fetal Kidney	kidney
41	chr2:173205000-173205800	Weak transcription	Fetal Thymus	thymus
42	chr2:173205000-173206600	Weak transcription	Brain Substantia Nigra	brain
43	chr2:173205000-173206800	Weak transcription	Left Ventricle	heart
44	chr2:173205200-173205600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr2:173205200-173205600	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr2:173205200-173205800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr2:173205200-173205800	Active TSS	A549	lung
48	chr2:173205200-173206400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:173205200-173206800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:173205200-173207400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links