Variant report

Variant	rs61585800
Chromosome Location	chr8:120741207-120741208
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120731614..120734170-chr8:120741119..120743235,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10101391	0.89[EUR][1000 genomes]
rs10101983	0.87[EUR][1000 genomes]
rs10106425	0.89[EUR][1000 genomes]
rs10505373	0.89[EUR][1000 genomes]
rs11552092	0.86[EUR][1000 genomes]
rs1433949	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16893014	0.95[EUR][1000 genomes]
rs16893117	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16893176	0.91[EUR][1000 genomes]
rs16893201	0.84[EUR][1000 genomes]
rs2164021	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56116632	1.00[EUR][1000 genomes]
rs56168312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56285268	1.00[EUR][1000 genomes]
rs56369293	1.00[EUR][1000 genomes]
rs56712359	1.00[EUR][1000 genomes]
rs57094219	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57423283	0.88[EUR][1000 genomes]
rs60576513	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60762762	1.00[EUR][1000 genomes]
rs6469842	0.81[EUR][1000 genomes]
rs6469843	0.81[EUR][1000 genomes]
rs6469847	0.91[EUR][1000 genomes]
rs6469848	0.91[EUR][1000 genomes]
rs6987348	0.82[EUR][1000 genomes]
rs6989251	1.00[EUR][1000 genomes]
rs6994297	0.91[EUR][1000 genomes]
rs6995449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996373	0.91[EUR][1000 genomes]
rs7016177	0.81[EUR][1000 genomes]
rs73702609	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73702610	0.81[EUR][1000 genomes]
rs73702612	0.91[EUR][1000 genomes]
rs73713100	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73713102	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827756	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7831321	0.81[EUR][1000 genomes]
rs7833407	0.91[EUR][1000 genomes]
rs7835482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839841	0.91[EUR][1000 genomes]
rs7843034	0.81[EUR][1000 genomes]
rs956748	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs956749	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic 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	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs61585800	TAF2	cis	Thyroid	GTEx
rs61585800	TAF2	Cis_1M	lymphoblastoid	RTeQTL
rs61585800	TAF2	cis	lung	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120722200-120741400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:120730400-120743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:120730600-120743800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:120730600-120750800	Weak transcription	HSMMtube	muscle
6	chr8:120730800-120744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:120730800-120753600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:120731400-120742800	Weak transcription	Osteobl	bone
9	chr8:120731800-120741600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:120731800-120743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:120733800-120741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:120733800-120768600	Weak transcription	Colonic Mucosa	Colon
13	chr8:120734200-120743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:120734200-120743800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:120734400-120741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:120734400-120743400	Weak transcription	Left Ventricle	heart
17	chr8:120734400-120743600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:120734400-120743600	Weak transcription	Hela-S3	cervix
19	chr8:120734400-120744000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:120734600-120742000	Weak transcription	HSMM	muscle
21	chr8:120734600-120743600	Weak transcription	Fetal Lung	lung
22	chr8:120734600-120743800	Weak transcription	Ovary	ovary
23	chr8:120734600-120747400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:120734600-120779600	Weak transcription	Gastric	stomach
25	chr8:120734800-120742600	Weak transcription	Liver	Liver
26	chr8:120734800-120743600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:120735000-120753800	Weak transcription	NHDF-Ad	bronchial
28	chr8:120735200-120743600	Weak transcription	HepG2	liver
29	chr8:120735200-120743600	Weak transcription	HUVEC	blood vessel
30	chr8:120735200-120754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:120735200-120756400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:120735400-120742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:120735400-120743000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:120735400-120743400	Weak transcription	Fetal Intestine Large	intestine
35	chr8:120735400-120743600	Weak transcription	Adipose Nuclei	Adipose
36	chr8:120735600-120742800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:120735600-120743600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:120735600-120744000	Weak transcription	Small Intestine	intestine
39	chr8:120735600-120748200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:120736200-120743800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:120736200-120743800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:120736400-120767200	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:120736600-120743400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:120736600-120743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:120736600-120746200	Weak transcription	Brain Substantia Nigra	brain
46	chr8:120736600-120779600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:120736600-120779800	Weak transcription	Aorta	Aorta
48	chr8:120736600-120779800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:120736800-120741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:120736800-120743600	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links