Variant report

Variant	rs913257
Chromosome Location	chr1:170521376-170521377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170505053..170507174-chr1:170519698..170521643,2	K562	blood:

Variant related genes	Relation type
ENSG00000120370	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10753816	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1333141	0.96[MEX][hapmap]
rs1537389	0.91[MEX][hapmap]
rs2183372	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs2421326	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs4656781	0.83[AFR][1000 genomes]
rs6676293	1.00[JPT][hapmap]
rs7552922	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9919189	0.90[ASN][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	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs913257	SELE	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170502600-170523400	Weak transcription	Fetal Brain Male	brain
2	chr1:170503000-170523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:170505000-170524800	Strong transcription	Dnd41	blood
4	chr1:170505400-170522800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:170506000-170522200	Strong transcription	Primary B cells from cord blood	blood
6	chr1:170507600-170523600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr1:170507600-170524000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:170507800-170521800	Strong transcription	Fetal Lung	lung
9	chr1:170507800-170522200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:170507800-170522600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:170508000-170522000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:170508000-170523000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:170508200-170522200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:170508200-170523400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:170508200-170524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:170508400-170521600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:170508400-170522000	Strong transcription	Placenta	Placenta
18	chr1:170508400-170522200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:170508400-170522200	Strong transcription	Primary hematopoietic stem cells	blood
20	chr1:170508400-170522200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:170508400-170522200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:170508400-170522200	Strong transcription	Fetal Thymus	thymus
23	chr1:170508400-170522200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:170508400-170522400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:170508400-170523600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:170508400-170523600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:170508400-170523800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:170508400-170523800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:170508800-170524000	Strong transcription	Liver	Liver
30	chr1:170509200-170522200	Strong transcription	Primary T cells from cord blood	blood
31	chr1:170509600-170522200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:170509800-170523600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:170512000-170522200	Strong transcription	A549	lung
34	chr1:170512600-170527200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:170513400-170522000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:170513600-170522000	Strong transcription	Fetal Intestine Large	intestine
37	chr1:170513600-170522000	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:170514000-170532000	Weak transcription	Brain Angular Gyrus	brain
39	chr1:170514200-170524000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:170514400-170526800	Weak transcription	Psoas Muscle	Psoas
41	chr1:170514400-170532000	Weak transcription	Small Intestine	intestine
42	chr1:170514600-170524400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:170515000-170522000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:170515000-170522200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:170515000-170523800	Strong transcription	HSMM	muscle
46	chr1:170515000-170524600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:170515200-170522600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:170515200-170523000	Strong transcription	NHDF-Ad	bronchial
49	chr1:170515200-170523200	Strong transcription	Osteobl	bone
50	chr1:170515200-170524200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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