Variant report

Variant	rs2300908
Chromosome Location	chr6:88212054-88212055
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:88209796..88213388-chr6:88214017..88217498,5	K562	blood:
2	chr6:88181739..88184419-chr6:88211542..88213225,2	MCF-7	breast:
3	chr6:88201221..88203408-chr6:88211476..88213020,2	K562	blood:

Variant related genes	Relation type
ENSG00000164414	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1052623	0.95[JPT][hapmap]
rs10944310	1.00[CHB][hapmap]
rs11962148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11965562	1.00[CHB][hapmap]
rs11970696	1.00[CHB][hapmap]
rs12524203	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12524205	0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12530371	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs13195393	0.87[ASN][1000 genomes]
rs13214442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs16879887	0.95[CHB][hapmap]
rs16879893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2092649	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2143890	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2223877	1.00[CHB][hapmap]
rs2246051	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2246057	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2268995	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2268996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295088	0.86[CHB][hapmap]
rs2300898	0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2300899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300900	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2300904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300907	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3818057	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4354121	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4707385	0.95[JPT][hapmap]
rs58785365	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6454634	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6903332	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6915077	1.00[CHB][hapmap]
rs6927171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6928057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6931177	0.87[ASN][1000 genomes]
rs728582	1.00[CHB][hapmap]
rs7383567	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7649	0.90[CHB][hapmap]
rs7759462	0.84[ASN][1000 genomes]
rs7761943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9294385	0.95[JPT][hapmap]
rs9444499	1.00[CHB][hapmap]
rs9444501	1.00[CHB][hapmap]
rs9444509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9444511	0.84[ASN][1000 genomes]
rs9444514	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs9450659	0.95[CHB][hapmap]
rs9450667	1.00[CHB][hapmap]
rs9450677	1.00[CHB][hapmap]
rs9450681	1.00[CHB][hapmap]
rs9450686	1.00[CHB][hapmap]
rs9450693	1.00[CHB][hapmap]
rs9450694	0.94[CHB][hapmap]
rs9450697	1.00[CHB][hapmap]
rs9450698	1.00[CHB][hapmap]
rs9450699	0.91[CHB][hapmap]
rs9450700	0.91[CHB][hapmap]
rs9450708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9450709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9450711	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9450716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450719	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9450721	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9450740	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs9450749	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs9450750	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs9450751	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs9450756	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs9474	0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018155	chr6:88049729-88272862	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv830722	chr6:88054186-88223625	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1031961	chr6:88110401-88367006	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1031460	chr6:88153079-88410050	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1026482	chr6:88164934-88409728	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1027706	chr6:88168987-88409728	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2300908	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88183600-88212800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:88183600-88226000	Weak transcription	Gastric	stomach
3	chr6:88183800-88212600	Weak transcription	Psoas Muscle	Psoas
4	chr6:88183800-88216400	Weak transcription	K562	blood
5	chr6:88183800-88219800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:88183800-88221000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:88183800-88221000	Weak transcription	Fetal Kidney	kidney
8	chr6:88183800-88225400	Weak transcription	Aorta	Aorta
9	chr6:88183800-88227400	Weak transcription	Right Ventricle	heart
10	chr6:88184000-88218600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:88184000-88218600	Weak transcription	Brain Angular Gyrus	brain
12	chr6:88184000-88218800	Weak transcription	Brain Germinal Matrix	brain
13	chr6:88184000-88219800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:88184000-88221000	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:88184000-88224200	Weak transcription	Hela-S3	cervix
16	chr6:88184200-88214800	Weak transcription	Fetal Brain Male	brain
17	chr6:88188600-88221600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:88191200-88227400	Weak transcription	Spleen	Spleen
19	chr6:88193600-88214200	Weak transcription	HSMMtube	muscle
20	chr6:88193600-88227600	Weak transcription	Pancreas	Pancrea
21	chr6:88193800-88220400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:88193800-88221000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:88193800-88221400	Weak transcription	Ovary	ovary
24	chr6:88193800-88227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:88194000-88214200	Weak transcription	NHLF	lung
26	chr6:88194000-88226200	Weak transcription	Lung	lung
27	chr6:88194000-88249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:88194200-88221400	Weak transcription	Colonic Mucosa	Colon
29	chr6:88194400-88212400	Weak transcription	Fetal Stomach	stomach
30	chr6:88194400-88212600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:88194400-88213000	Weak transcription	Esophagus	oesophagus
32	chr6:88194600-88228200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:88194800-88214400	Weak transcription	NHEK	skin
34	chr6:88197600-88212400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:88197600-88215800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:88197800-88212400	Weak transcription	NH-A	brain
37	chr6:88198800-88223600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:88199000-88219800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:88199200-88212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:88200600-88227400	Weak transcription	Small Intestine	intestine
41	chr6:88202200-88212600	Weak transcription	A549	lung
42	chr6:88205000-88213000	Weak transcription	Fetal Intestine Small	intestine
43	chr6:88205200-88224600	Weak transcription	Stomach Mucosa	stomach
44	chr6:88207200-88242600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:88208600-88215000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:88210000-88219000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:88210000-88223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:88210200-88213400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr6:88210200-88213400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:88210200-88214200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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