Variant report

Variant	rs73923292
Chromosome Location	chr2:30458366-30458367
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	chr2:30457858..30460277-chr2:30473755..30476331,2	K562	blood:
2	chr2:30457464..30459532-chr2:30469414..30471477,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11127272	1.00[EUR][1000 genomes]
rs12468378	1.00[ASN][1000 genomes]
rs13405267	1.00[ASN][1000 genomes]
rs17009351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876818	1.00[ASN][1000 genomes]
rs1876819	1.00[ASN][1000 genomes]
rs2055781	1.00[ASN][1000 genomes]
rs2055783	1.00[ASN][1000 genomes]
rs4324357	1.00[EUR][1000 genomes]
rs4328679	1.00[EUR][1000 genomes]
rs4352268	1.00[EUR][1000 genomes]
rs56917916	1.00[EUR][1000 genomes]
rs57627825	1.00[EUR][1000 genomes]
rs61679945	1.00[ASN][1000 genomes]
rs6726021	1.00[ASN][1000 genomes]
rs6741590	1.00[EUR][1000 genomes]
rs6752917	1.00[EUR][1000 genomes]
rs72865603	1.00[EUR][1000 genomes]
rs73923294	1.00[ASN][1000 genomes]
rs73925128	1.00[EUR][1000 genomes]
rs7590947	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30455200-30463400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:30455600-30460000	Transcr. at gene 5' and 3'	A549	lung
3	chr2:30455800-30458400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
4	chr2:30456000-30458400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:30456000-30458400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:30456000-30458400	Enhancers	HMEC	breast
7	chr2:30456000-30458600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
8	chr2:30456000-30464800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:30456400-30458800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
10	chr2:30456400-30464200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
11	chr2:30456600-30463200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:30456800-30458400	Transcr. at gene 5' and 3'	HSMMtube	muscle
13	chr2:30456800-30458600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:30456800-30459000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:30456800-30461000	Transcr. at gene 5' and 3'	NHLF	lung
16	chr2:30456800-30462800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:30457000-30458400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:30457000-30458400	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr2:30457000-30463800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
20	chr2:30457000-30476600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:30457200-30458400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:30457200-30458400	Genic enhancers	Fetal Brain Male	brain
23	chr2:30457200-30458600	Transcr. at gene 5' and 3'	Fetal Heart	heart
24	chr2:30457200-30459800	Weak transcription	Ovary	ovary
25	chr2:30457200-30460000	Transcr. at gene 5' and 3'	Thymus	Thymus
26	chr2:30457200-30460400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:30457200-30460800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:30457200-30463600	Genic enhancers	Spleen	Spleen
29	chr2:30457200-30470400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:30457200-30473000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:30457400-30458400	Active TSS	Rectal Smooth Muscle	rectum
32	chr2:30457400-30458400	Enhancers	Right Atrium	heart
33	chr2:30457400-30458400	Genic enhancers	Dnd41	blood
34	chr2:30457400-30458600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:30457400-30458800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:30457400-30459000	Genic enhancers	Brain Germinal Matrix	brain
37	chr2:30457400-30459800	Weak transcription	Esophagus	oesophagus
38	chr2:30457400-30461600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
39	chr2:30457400-30461600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
40	chr2:30457400-30462200	Genic enhancers	Left Ventricle	heart
41	chr2:30457400-30463000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
42	chr2:30457400-30463600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:30457400-30466400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:30457600-30458400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr2:30457600-30458800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:30457600-30459000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:30457600-30459200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr2:30457600-30459400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
49	chr2:30457600-30460000	Genic enhancers	Fetal Brain Female	brain
50	chr2:30457600-30460400	Weak transcription	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