Variant report

Variant	rs11765477
Chromosome Location	chr7:38219683-38219684
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	chr7:38218320..38221053-chr7:38246020..38247686,2	K562	blood:
2	chr7:38219568..38221988-chr7:38224913..38228070,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1019179	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10255648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10260257	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10260281	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10265931	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10480165	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10945	0.81[ASN][1000 genomes]
rs11773415	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12671662	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1524061	0.84[ASN][1000 genomes]
rs17171306	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1860523	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2079850	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2191313	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240823	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4720272	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4723736	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4723737	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59870865	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73128691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9490	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9801416	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	37 gene(s)	inside rSNPs	diseases
6	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11765477	STARD3NL	cis	Thyroid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38217000-38219800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:38217200-38220000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:38217200-38220000	Active TSS	Stomach Smooth Muscle	stomach
4	chr7:38217200-38220600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:38218400-38219800	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr7:38218400-38220000	Flanking Active TSS	Dnd41	blood
7	chr7:38218400-38220200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:38218400-38220800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:38218400-38223400	Weak transcription	Small Intestine	intestine
10	chr7:38218400-38225000	Weak transcription	Gastric	stomach
11	chr7:38218600-38219800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr7:38218600-38219800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr7:38218600-38220000	Flanking Active TSS	HMEC	breast
14	chr7:38218600-38220200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:38218600-38220200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:38218600-38220600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:38218600-38221000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr7:38218600-38221200	Flanking Active TSS	HUVEC	blood vessel
19	chr7:38218600-38221600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:38218600-38222400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:38218600-38224000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:38218600-38226200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:38218600-38226600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
25	chr7:38218800-38219800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:38218800-38219800	Enhancers	Hela-S3	cervix
27	chr7:38218800-38220000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:38218800-38220000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr7:38218800-38220000	Flanking Active TSS	Fetal Lung	lung
30	chr7:38218800-38220000	Flanking Active TSS	Osteobl	bone
31	chr7:38218800-38220200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:38218800-38220200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:38218800-38220200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:38218800-38220200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:38218800-38220400	Flanking Active TSS	K562	blood
36	chr7:38218800-38220400	Flanking Active TSS	NH-A	brain
37	chr7:38218800-38220600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:38218800-38220600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:38218800-38221600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr7:38218800-38223000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:38218800-38227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr7:38218800-38227800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:38218800-38227800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:38219000-38219800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:38219000-38219800	Flanking Active TSS	HSMM	muscle
46	chr7:38219000-38219800	Flanking Active TSS	HSMMtube	muscle
47	chr7:38219000-38220200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:38219000-38220200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr7:38219000-38220200	Enhancers	Fetal Stomach	stomach
50	chr7:38219000-38220200	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links