Variant report

Variant	rs2692035
Chromosome Location	chr2:30672835-30672836
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30659383..30661784-chr2:30671941..30674589,2	K562	blood:
2	chr2:30659383..30660987-chr2:30671941..30673568,2	K562	blood:
3	chr2:30672724..30675685-chr2:30694165..30695792,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1252624	0.85[EUR][1000 genomes]
rs1252625	0.85[EUR][1000 genomes]
rs1252646	0.85[EUR][1000 genomes]
rs2167969	0.83[EUR][1000 genomes]
rs4952147	0.84[EUR][1000 genomes]
rs6749074	0.81[EUR][1000 genomes]
rs829574	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829575	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829578	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829582	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829618	0.85[EUR][1000 genomes]
rs829619	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829620	0.89[EUR][1000 genomes]
rs829622	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829631	0.87[EUR][1000 genomes]
rs829634	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs829641	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829642	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829646	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829654	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829655	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs829659	0.88[EUR][1000 genomes]
rs829661	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs829662	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs829663	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs829669	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829670	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829671	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829672	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829673	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829675	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829677	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829679	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829680	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs844194	0.85[EUR][1000 genomes]
rs9309680	0.86[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	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30671000-30674200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:30671000-30675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:30671000-30675600	Weak transcription	Psoas Muscle	Psoas
4	chr2:30671000-30677400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:30671000-30678200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:30671000-30678400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:30671000-30679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:30671000-30682000	Weak transcription	Aorta	Aorta
9	chr2:30671000-30685200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:30671200-30678400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:30671200-30681200	Weak transcription	Right Atrium	heart
12	chr2:30671200-30688200	Weak transcription	HSMM	muscle
13	chr2:30671400-30673000	Enhancers	Liver	Liver
14	chr2:30671400-30673400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:30671400-30673800	Enhancers	Fetal Intestine Large	intestine
16	chr2:30671600-30673000	Weak transcription	Left Ventricle	heart
17	chr2:30671600-30673800	Enhancers	Fetal Intestine Small	intestine
18	chr2:30671600-30674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:30671600-30674400	Weak transcription	NHEK	skin
20	chr2:30671600-30675600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:30671600-30675600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:30671600-30676400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:30671600-30676800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:30671600-30678400	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:30671600-30678800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:30671600-30679000	Weak transcription	Lung	lung
27	chr2:30671600-30682000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:30671600-30682000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:30671600-30683800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:30671600-30685600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:30671600-30688000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:30671600-30688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:30671600-30694600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:30671600-30703400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:30671600-30704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:30671800-30673000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:30671800-30673600	Enhancers	HepG2	liver
38	chr2:30671800-30673800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr2:30671800-30675400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:30671800-30675600	Weak transcription	Fetal Brain Female	brain
41	chr2:30671800-30677400	Weak transcription	Small Intestine	intestine
42	chr2:30671800-30679600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:30671800-30679600	Weak transcription	Fetal Kidney	kidney
44	chr2:30671800-30681400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:30672000-30673000	Weak transcription	Primary T cells from cord blood	blood
46	chr2:30672000-30673000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:30672000-30673000	Weak transcription	Fetal Thymus	thymus
48	chr2:30672000-30674200	Weak transcription	HMEC	breast
49	chr2:30672000-30674400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:30672000-30675600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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