Variant report

Variant	rs7950171
Chromosome Location	chr11:3704704-3704705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3704347..3707149-chr11:3712744..3714293,2	K562	blood:
2	chr11:3703030..3704815-chr11:3705964..3708347,2	K562	blood:

Variant related genes	Relation type
ENSG00000238686	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10500588	1.00[ASW][hapmap]
rs10834848	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281006	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12292947	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12362694	0.89[JPT][hapmap]
rs12793302	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16929762	1.00[ASW][hapmap]
rs2231529	1.00[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs35081882	0.94[ASN][1000 genomes]
rs35463650	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35550930	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35670193	0.91[ASN][1000 genomes]
rs35934974	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56326815	0.91[ASN][1000 genomes]
rs6578411	1.00[CHD][hapmap];0.89[JPT][hapmap];0.84[MKK][hapmap];0.88[ASN][1000 genomes]
rs7122393	0.85[ASN][1000 genomes]
rs7945156	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047763	chr11:2918998-3751029	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv2758252	chr11:3236512-3801429	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2759796	chr11:3236512-3801429	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv832051	chr11:3523947-3728714	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1820972	chr11:3616884-3801429	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv1821329	chr11:3616884-3801429	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv832052	chr11:3616884-3801429	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv428247	chr11:3616884-3801429	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv526441	chr11:3626177-3756686	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv1046356	chr11:3628837-3774215	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv1044345	chr11:3628912-3739222	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv540906	chr11:3628912-3739222	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv1044419	chr11:3628912-3751029	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
16	nsv1043716	chr11:3685149-3751029	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv540908	chr11:3685149-3751029	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7950171	TMEM80	cis	parietal	SCAN
rs7950171	TRIM6-TRIM34	cis	cerebellum	SCAN
rs7950171	OR51F2	cis	cerebellum	SCAN
rs7950171	OR52N5	cis	parietal	SCAN
rs7950171	ART5	cis	parietal	SCAN
rs7950171	KRTAP5-3	cis	parietal	SCAN
rs7950171	OR52B6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3684400-3705400	Strong transcription	Fetal Muscle Leg	muscle
2	chr11:3685000-3728000	Strong transcription	Stomach Smooth Muscle	stomach
3	chr11:3685000-3743800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr11:3685200-3705600	Strong transcription	Brain Germinal Matrix	brain
5	chr11:3685200-3728200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:3685200-3728200	Strong transcription	Thymus	Thymus
7	chr11:3685200-3730000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:3685200-3766800	Strong transcription	Placenta	Placenta
9	chr11:3685400-3704800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:3685400-3704800	Strong transcription	Brain Hippocampus Middle	brain
11	chr11:3685400-3705200	Strong transcription	Spleen	Spleen
12	chr11:3685400-3705400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:3685400-3711000	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:3685400-3728200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:3685400-3728400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:3685400-3731200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:3685400-3733400	Strong transcription	Fetal Intestine Large	intestine
18	chr11:3685400-3739000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:3685400-3741600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:3685400-3743800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:3685400-3802600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:3685600-3719000	Strong transcription	Primary T cells from cord blood	blood
23	chr11:3685600-3728400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:3685600-3728400	Strong transcription	Adipose Nuclei	Adipose
25	chr11:3685600-3805600	Strong transcription	Fetal Thymus	thymus
26	chr11:3685800-3710800	Strong transcription	Brain Anterior Caudate	brain
27	chr11:3685800-3754200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:3685800-3776200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:3685800-3779800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:3686000-3779800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:3686400-3724000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:3686600-3802600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:3686800-3719000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:3686800-3757400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:3687000-3730400	Strong transcription	Liver	Liver
36	chr11:3687000-3805600	Strong transcription	Dnd41	blood
37	chr11:3687200-3767000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:3687600-3743800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:3687600-3802200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:3687600-3802200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:3687800-3801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:3689600-3705000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:3689600-3708800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr11:3690000-3705000	Strong transcription	Primary B cells from cord blood	blood
45	chr11:3690000-3705200	Strong transcription	Rectal Smooth Muscle	rectum
46	chr11:3690000-3713000	Strong transcription	A549	lung
47	chr11:3690000-3724200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr11:3690200-3704800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:3690600-3714000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:3691200-3721600	Strong transcription	Fetal Stomach	stomach

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