Variant report

Variant	rs71325237
Chromosome Location	chr22:27713208-27713209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:27711821..27714484-chr22:27715858..27718527,2	K562	blood:
2	chr22:27711302..27714026-chr22:27718746..27720459,2	MCF-7	breast:
3	chr22:27711066..27713775-chr22:27733524..27735258,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYBA4-8	chr22:27712765-27713416	XLOC_014197
2	lnc-CRYBA4-8	chr22:27713099-27713407	XLOC_014197
3	lnc-CRYBA4-8	chr22:27713099-27713404	XLOC_014197
4	lnc-CRYBA4-8	chr22:27712765-27713417	ENSG00000226741

No data

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13058091	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34229941	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34598999	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34769103	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34856866	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34857171	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35516753	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35575363	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36013403	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36032721	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57298963	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs573008	0.92[EUR][1000 genomes]
rs66507623	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67915283	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71325236	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883119	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73883121	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27706800-27715400	Enhancers	Fetal Intestine Large	intestine
2	chr22:27707200-27715400	Enhancers	Fetal Intestine Small	intestine
3	chr22:27707400-27714600	Enhancers	Colonic Mucosa	Colon
4	chr22:27708200-27713400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:27708200-27715200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr22:27709000-27714200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:27709000-27714600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:27709000-27715600	Enhancers	Fetal Brain Male	brain
9	chr22:27709200-27713600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:27709200-27714400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:27709400-27713600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:27709400-27714200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:27709400-27714400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:27709400-27714600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:27709600-27713400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr22:27709600-27713600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:27709800-27714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:27710000-27714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:27710400-27713400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:27710400-27713400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:27710400-27714200	Weak transcription	NH-A	brain
22	chr22:27710400-27714600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:27710800-27713600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr22:27710800-27714600	Weak transcription	Ovary	ovary
25	chr22:27712000-27714000	Weak transcription	Pancreas	Pancrea
26	chr22:27712600-27713800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:27712600-27714000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr22:27712600-27714800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:27712800-27713600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr22:27712800-27714400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr22:27712800-27715000	Enhancers	Fetal Muscle Trunk	muscle
32	chr22:27712800-27715200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr22:27712800-27715200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:27712800-27715200	Enhancers	Adipose Nuclei	Adipose
35	chr22:27713000-27713400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:27713000-27713400	Weak transcription	Brain Germinal Matrix	brain
37	chr22:27713000-27714600	Enhancers	Duodenum Mucosa	Duodenum
38	chr22:27713000-27715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:27713200-27713400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:27713200-27713800	Enhancers	Fetal Brain Female	brain
41	chr22:27713200-27713800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr22:27713200-27714000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:27713200-27714200	Enhancers	Fetal Thymus	thymus
44	chr22:27713200-27714800	Enhancers	Rectal Smooth Muscle	rectum
45	chr22:27713200-27714800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr22:27713200-27715000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr22:27713200-27715200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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