Variant report

Variant	rs35508116
Chromosome Location	chr1:210027936-210027937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210010076..210012426-chr1:210027665..210030061,2	K562	blood:
2	chr1:210021955..210024232-chr1:210027694..210029567,2	K562	blood:
3	chr1:210026504..210028571-chr1:210545991..210548661,2	K562	blood:
4	chr1:210026731..210029603-chr1:210060383..210062593,2	K562	blood:
5	chr1:210026504..210029493-chr1:210547161..210548663,2	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000117597	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1073150	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11803382	0.81[ASN][1000 genomes]
rs11805830	0.81[ASN][1000 genomes]
rs1319072	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1415543	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17015309	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17015330	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17015361	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17015379	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2205984	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357230	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4556361	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59100111	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61747285	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6540560	0.81[ASN][1000 genomes]
rs6540561	0.81[ASN][1000 genomes]
rs6540563	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6540564	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6698154	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73093853	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7511996	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7522045	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7525951	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7539638	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210001800-210034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:210002400-210032000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:210003200-210028600	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr1:210003200-210029400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:210003400-210028000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:210003400-210028400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr1:210003600-210028000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:210003800-210028000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:210003800-210028200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:210003800-210028400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:210004000-210028000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:210004000-210028000	Strong transcription	Fetal Thymus	thymus
13	chr1:210004000-210028200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:210004000-210030800	Strong transcription	Primary B cells from cord blood	blood
15	chr1:210004200-210028000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:210004200-210028400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:210004200-210028400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:210004200-210028800	Strong transcription	Adipose Nuclei	Adipose
19	chr1:210004200-210029600	Strong transcription	Fetal Muscle Leg	muscle
20	chr1:210004200-210030200	Strong transcription	Primary T cells from cord blood	blood
21	chr1:210004400-210029400	Strong transcription	Dnd41	blood
22	chr1:210004600-210028000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:210004600-210028000	Strong transcription	GM12878-XiMat	blood
24	chr1:210013200-210028800	Strong transcription	Fetal Intestine Large	intestine
25	chr1:210013400-210028800	Strong transcription	Liver	Liver
26	chr1:210013800-210028000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:210013800-210029400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:210014400-210028800	Strong transcription	NHEK	skin
29	chr1:210014400-210029400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:210014600-210028200	Strong transcription	Hela-S3	cervix
31	chr1:210017600-210041200	Weak transcription	Fetal Brain Male	brain
32	chr1:210018000-210032800	Weak transcription	Small Intestine	intestine
33	chr1:210018800-210029400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:210019000-210028600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:210019000-210033800	Weak transcription	Fetal Heart	heart
36	chr1:210019800-210028800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr1:210019800-210030200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:210020000-210028000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:210020600-210029600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:210020800-210028200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:210020800-210028800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:210021000-210028000	Strong transcription	Placenta	Placenta
43	chr1:210021200-210028200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:210022000-210028000	Strong transcription	Left Ventricle	heart
45	chr1:210022000-210029400	Strong transcription	Fetal Brain Female	brain
46	chr1:210022200-210029400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:210022200-210029400	Strong transcription	Thymus	Thymus
48	chr1:210022200-210029400	Strong transcription	Spleen	Spleen
49	chr1:210022600-210028000	Strong transcription	HUVEC	blood vessel
50	chr1:210023000-210028600	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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