Variant report

Variant	rs2071947
Chromosome Location	chr22:33246032-33246033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33231459..33233462-chr22:33245687..33247354,2	K562	blood:
2	22:31998728-32011472..22:33242943-33247041	GM12878	blood:

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11547635	0.83[CHD][hapmap]
rs137489	0.84[MKK][hapmap];0.82[TSI][hapmap]
rs137494	0.80[TSI][hapmap]
rs1427385	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs2267183	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs2283883	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283884	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283885	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754312	0.86[CHB][hapmap];0.85[ASN][1000 genomes]

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	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33217800-33248600	Weak transcription	Gastric	stomach
2	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:33227600-33248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:33227600-33249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:33227800-33252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:33228000-33252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:33228000-33252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:33236200-33253800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:33236200-33259000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
13	chr22:33238400-33259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:33239000-33246200	Weak transcription	NHDF-Ad	bronchial
15	chr22:33239000-33248800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr22:33239200-33248400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:33241000-33252800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:33241400-33251400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr22:33241600-33251600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:33241600-33257800	Strong transcription	HepG2	liver
21	chr22:33241600-33258400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:33241800-33246400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr22:33242400-33246200	Weak transcription	Colonic Mucosa	Colon
24	chr22:33243200-33246200	Strong transcription	Osteobl	bone
25	chr22:33243200-33252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:33243400-33248600	Weak transcription	Fetal Thymus	thymus
27	chr22:33243400-33257600	Weak transcription	Fetal Brain Male	brain
28	chr22:33243400-33260200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:33243600-33254000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:33243800-33252800	Weak transcription	Fetal Kidney	kidney
31	chr22:33243800-33255800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr22:33244000-33246200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr22:33244000-33250200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:33244000-33250400	Weak transcription	NHEK	skin
35	chr22:33244200-33262000	Weak transcription	Brain Germinal Matrix	brain
36	chr22:33244400-33253600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr22:33244600-33246600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:33244600-33247400	Enhancers	Psoas Muscle	Psoas
39	chr22:33244600-33249400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:33244600-33249600	Enhancers	Right Atrium	heart
41	chr22:33244600-33251800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:33244800-33246200	Strong transcription	Fetal Muscle Leg	muscle
43	chr22:33244800-33247600	Genic enhancers	Lung	lung
44	chr22:33244800-33248200	Genic enhancers	Left Ventricle	heart
45	chr22:33244800-33249400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:33244800-33249400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:33244800-33249600	Genic enhancers	Fetal Stomach	stomach
48	chr22:33244800-33257800	Strong transcription	NH-A	brain
49	chr22:33245000-33246400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr22:33245000-33247000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links