Variant report

Variant	rs73923294
Chromosome Location	chr2:30463911-30463912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30461744..30464187-chr2:30883042..30884616,2	K562	blood:
2	chr2:30463829..30466143-chr2:30472791..30475972,4	K562	blood:
3	chr2:30459999..30464804-chr2:30474137..30477672,6	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12468378	1.00[ASN][1000 genomes]
rs13405267	1.00[ASN][1000 genomes]
rs17009351	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]
rs61679945	1.00[ASN][1000 genomes]
rs6726021	1.00[ASN][1000 genomes]
rs73923292	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv2662	chr2:30462905-30495134	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30456000-30464800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30456400-30464200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr2:30457000-30476600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:30457200-30470400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:30457200-30473000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:30457400-30466400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:30457600-30464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:30457600-30471800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:30457800-30467400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:30457800-30481000	Weak transcription	Gastric	stomach
11	chr2:30458000-30464600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:30458400-30464800	Genic enhancers	Primary B cells from cord blood	blood
13	chr2:30458400-30475800	Weak transcription	Fetal Kidney	kidney
14	chr2:30458600-30464800	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr2:30458800-30464200	Genic enhancers	Fetal Thymus	thymus
16	chr2:30460800-30464800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:30460800-30471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:30461000-30479800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:30461200-30464200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:30461400-30464200	Enhancers	K562	blood
21	chr2:30461400-30469400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:30461800-30465400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:30461800-30472200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:30462000-30464200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:30462200-30464200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:30462200-30464600	Enhancers	Left Ventricle	heart
27	chr2:30462200-30473200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:30462400-30464200	Enhancers	Right Atrium	heart
29	chr2:30462400-30468200	Weak transcription	GM12878-XiMat	blood
30	chr2:30462600-30464000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:30462600-30464200	Enhancers	Small Intestine	intestine
32	chr2:30462600-30468200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:30462600-30468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:30462800-30464600	Enhancers	Right Ventricle	heart
35	chr2:30462800-30466600	Strong transcription	NH-A	brain
36	chr2:30462800-30471200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:30462800-30474800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:30462800-30475400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr2:30463000-30464000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:30463000-30464200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:30463000-30464600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:30463000-30464800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:30463000-30464800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:30463000-30464800	Genic enhancers	Fetal Heart	heart
45	chr2:30463000-30467400	Genic enhancers	A549	lung
46	chr2:30463000-30471000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:30463000-30473000	Weak transcription	Fetal Intestine Small	intestine
48	chr2:30463000-30474200	Weak transcription	Fetal Intestine Large	intestine
49	chr2:30463000-30474800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:30463000-30475400	Genic enhancers	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links