Variant report

Variant	rs10910849
Chromosome Location	chr1:180980443-180980444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180980083..180981782-chr1:180991669..180993562,2	K562	blood:
2	chr1:180958996..180961747-chr1:180978821..180982179,3	K562	blood:
3	chr1:180921489..180923428-chr1:180979617..180981443,2	MCF-7	breast:
4	chr1:180979963..180982436-chr1:180989539..180991619,3	K562	blood:
5	chr1:180976610..180978803-chr1:180979756..180981941,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135823	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10797664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589765	0.80[AMR][1000 genomes]
rs12073184	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12411105	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331992	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672928	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3930261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652549	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692913	0.91[ASW][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap]

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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1011081	chr1:180973159-181135953	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10910849	STX6	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180940400-180988400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:180959200-180990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:180960600-180985200	Weak transcription	Stomach Mucosa	stomach
4	chr1:180973400-180981000	Weak transcription	Fetal Kidney	kidney
5	chr1:180973800-180981200	Weak transcription	Aorta	Aorta
6	chr1:180973800-180982400	Weak transcription	Spleen	Spleen
7	chr1:180973800-180988200	Weak transcription	Fetal Brain Male	brain
8	chr1:180973800-180989600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:180973800-180990600	Weak transcription	Colonic Mucosa	Colon
10	chr1:180973800-180990800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:180974000-180980800	Weak transcription	Lung	lung
12	chr1:180974000-180990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:180974400-180990000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:180974600-180980600	Weak transcription	NHEK	skin
15	chr1:180974600-180980800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:180974600-180980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:180974600-180980800	Weak transcription	Left Ventricle	heart
18	chr1:180974600-180980800	Weak transcription	Pancreas	Pancrea
19	chr1:180974600-180980800	Weak transcription	Right Ventricle	heart
20	chr1:180974600-180980800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:180974600-180981000	Weak transcription	Primary T cells from cord blood	blood
22	chr1:180974600-180982000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:180974600-180982400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:180974600-180982400	Weak transcription	HMEC	breast
25	chr1:180974600-180982600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:180974600-180982800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:180974600-180984000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:180974600-180984200	Weak transcription	HUVEC	blood vessel
29	chr1:180974600-180986600	Weak transcription	Fetal Intestine Large	intestine
30	chr1:180974600-180988200	Weak transcription	Gastric	stomach
31	chr1:180974600-180990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:180974600-180990600	Weak transcription	Liver	Liver
33	chr1:180974600-180990600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:180974600-180990600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:180974800-180980800	Weak transcription	Esophagus	oesophagus
36	chr1:180974800-180980800	Weak transcription	Psoas Muscle	Psoas
37	chr1:180974800-180981600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:180974800-180981600	Weak transcription	Fetal Thymus	thymus
39	chr1:180974800-180981800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:180974800-180981800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:180974800-180982000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:180974800-180982000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:180974800-180982000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:180974800-180982000	Weak transcription	Thymus	Thymus
45	chr1:180974800-180982200	Weak transcription	HepG2	liver
46	chr1:180974800-180982400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:180974800-180982600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:180974800-180983800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:180974800-180989800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:180974800-180990800	Weak transcription	Rectal Mucosa Donor 31	rectum

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