Variant report

Variant	rs1106715
Chromosome Location	chr22:27713849-27713850
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1607498	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16984292	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35173189	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55759797	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55826249	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56676248	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997220	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61289506	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8135463	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8135561	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9608598	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9613418	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][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:53 , 50 per page) page: 1 2

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	chr22:27708200-27715200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr22:27709000-27714200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:27709000-27714600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:27709000-27715600	Enhancers	Fetal Brain Male	brain
8	chr22:27709200-27714400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:27709400-27714200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:27709400-27714400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:27709400-27714600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:27709800-27714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:27710000-27714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:27710400-27714200	Weak transcription	NH-A	brain
15	chr22:27710400-27714600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:27710800-27714600	Weak transcription	Ovary	ovary
17	chr22:27712000-27714000	Weak transcription	Pancreas	Pancrea
18	chr22:27712600-27714000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr22:27712600-27714800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:27712800-27714400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr22:27712800-27715000	Enhancers	Fetal Muscle Trunk	muscle
22	chr22:27712800-27715200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr22:27712800-27715200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:27712800-27715200	Enhancers	Adipose Nuclei	Adipose
25	chr22:27713000-27714600	Enhancers	Duodenum Mucosa	Duodenum
26	chr22:27713000-27715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:27713200-27714000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:27713200-27714200	Enhancers	Fetal Thymus	thymus
29	chr22:27713200-27714800	Enhancers	Rectal Smooth Muscle	rectum
30	chr22:27713200-27714800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:27713200-27715000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr22:27713200-27715200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr22:27713400-27714000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr22:27713400-27715000	Enhancers	Fetal Kidney	kidney
35	chr22:27713400-27715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:27713400-27715200	Enhancers	Primary hematopoietic stem cells	blood
37	chr22:27713400-27715200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:27713400-27715400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:27713600-27714400	Enhancers	Psoas Muscle	Psoas
40	chr22:27713600-27714800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr22:27713600-27714800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr22:27713600-27714800	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr22:27713600-27714800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:27713600-27715000	Enhancers	Colon Smooth Muscle	Colon
45	chr22:27713600-27715000	Enhancers	Fetal Muscle Leg	muscle
46	chr22:27713800-27714200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:27713800-27714200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr22:27713800-27714400	Flanking Active TSS	Fetal Brain Female	brain
49	chr22:27713800-27714600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr22:27713800-27714600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links