Variant report

Variant	rs4713646
Chromosome Location	chr6:33606523-33606524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33589679..33592438-chr6:33605298..33608151,2	MCF-7	breast:
2	chr6:33600933..33606541-chr6:33607486..33611147,7	K562	blood:
3	chr6:33603324..33605214-chr6:33605377..33607191,2	MCF-7	breast:
4	chr6:33600220..33603162-chr6:33605195..33607351,4	MCF-7	breast:
5	chr6:33606446..33608030-chr6:33621770..33624692,2	K562	blood:
6	chr6:33606352..33608133-chr6:33668168..33670127,2	K562	blood:
7	chr6:33604565..33606650-chr6:33635359..33638294,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12662525	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs375555	0.81[GIH][hapmap]
rs3916279	0.85[EUR][1000 genomes]
rs407415	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs434026	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs444697	0.85[EUR][1000 genomes]
rs55642707	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55792355	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6935686	0.86[CHB][hapmap]
rs7768202	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9348921	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9348922	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9366825	0.86[CHB][hapmap]
rs9368768	0.89[AFR][1000 genomes]
rs9368769	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9469532	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4713646	HLA-DPB1	cis	lymphoblastoid	seeQTL
rs4713646	FTSJD2	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33602200-33608200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:33602400-33607400	Weak transcription	Thymus	Thymus
3	chr6:33602400-33607600	Weak transcription	Primary T cells from cord blood	blood
4	chr6:33602400-33607600	Weak transcription	Colonic Mucosa	Colon
5	chr6:33602400-33608200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:33602400-33609000	Enhancers	Stomach Mucosa	stomach
7	chr6:33602400-33609400	Weak transcription	GM12878-XiMat	blood
8	chr6:33602400-33609800	Weak transcription	K562	blood
9	chr6:33602400-33617800	Weak transcription	NHLF	lung
10	chr6:33602400-33622600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:33602400-33636400	Weak transcription	HSMMtube	muscle
12	chr6:33602600-33606600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:33602600-33608400	Weak transcription	Esophagus	oesophagus
14	chr6:33602600-33608600	Weak transcription	Dnd41	blood
15	chr6:33602600-33609800	Weak transcription	Fetal Lung	lung
16	chr6:33602600-33610600	Weak transcription	Right Atrium	heart
17	chr6:33602600-33614800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:33602600-33619200	Weak transcription	NHDF-Ad	bronchial
19	chr6:33602600-33623400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:33602600-33624400	Weak transcription	Small Intestine	intestine
21	chr6:33602600-33625400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:33602600-33625800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:33602600-33631600	Weak transcription	Osteobl	bone
24	chr6:33602800-33606600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:33602800-33607600	Weak transcription	HMEC	breast
26	chr6:33602800-33607800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:33602800-33608400	Weak transcription	Right Ventricle	heart
28	chr6:33602800-33608800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:33602800-33613400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:33602800-33624400	Weak transcription	Pancreas	Pancrea
31	chr6:33603000-33624000	Weak transcription	HSMM	muscle
32	chr6:33603000-33628600	Weak transcription	Primary B cells from cord blood	blood
33	chr6:33603200-33619600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:33603400-33606800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:33603400-33607800	Weak transcription	Spleen	Spleen
36	chr6:33603400-33608200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:33603400-33608400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:33603400-33623000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:33603400-33626000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:33603400-33640400	Weak transcription	HUVEC	blood vessel
41	chr6:33603400-33641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:33603600-33606800	Weak transcription	Gastric	stomach
43	chr6:33603600-33607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:33603600-33608600	Weak transcription	Fetal Thymus	thymus
45	chr6:33603600-33608800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:33604200-33607600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:33604400-33608000	Enhancers	Fetal Intestine Large	intestine
48	chr6:33604400-33608400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:33604400-33608600	Genic enhancers	Fetal Intestine Small	intestine
50	chr6:33604400-33614400	Weak transcription	HepG2	liver

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