Variant report

Variant	rs1321313
Chromosome Location	chr6:36618821-36618822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36609340..36611035-chr6:36617549..36619389,2	K562	blood:
2	chr6:36591713..36594218-chr6:36617666..36619384,2	MCF-7	breast:
3	chr6:36618015..36619715-chr6:36627253..36629685,2	MCF-7	breast:
4	chr6:36611974..36613639-chr6:36617338..36618875,2	K562	blood:
5	chr6:36615853..36625488-chr6:36645022..36649146,15	MCF-7	breast:
6	chr6:36617326..36619244-chr6:36622904..36626084,3	K562	blood:

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12199346	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12207916	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1321310	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1321311	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3176326	0.81[JPT][hapmap]
rs4331968	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56100429	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs66761782	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7742159	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7756236	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9462207	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9462210	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9470358	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9470361	1.00[CEU][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9470366	0.91[CEU][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9918353	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Electrocardiographic conduction measures	23463857	GWAS catalog

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36611600-36628600	Weak transcription	Right Atrium	heart
2	chr6:36613200-36619600	Weak transcription	Placenta	Placenta
3	chr6:36613400-36625000	Weak transcription	Fetal Kidney	kidney
4	chr6:36616800-36619400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:36616800-36619400	Enhancers	Adipose Nuclei	Adipose
6	chr6:36617000-36619200	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:36617000-36619200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:36617000-36619200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:36617000-36619800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:36617200-36620200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:36617200-36620400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:36617400-36619200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr6:36617400-36619200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:36617400-36619400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:36617400-36619400	Bivalent Enhancer	K562	blood
16	chr6:36617400-36619600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr6:36617400-36620400	Enhancers	Primary B cells from cord blood	blood
18	chr6:36617400-36620400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr6:36617400-36620600	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:36617400-36621600	Enhancers	Fetal Intestine Large	intestine
21	chr6:36617400-36621600	Enhancers	Fetal Intestine Small	intestine
22	chr6:36617600-36619000	Enhancers	Stomach Mucosa	stomach
23	chr6:36617600-36619200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:36617600-36619800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:36617800-36619200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:36617800-36619600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:36617800-36619800	Bivalent Enhancer	HepG2	liver
28	chr6:36617800-36620000	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:36618000-36619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:36618000-36619600	Enhancers	Fetal Thymus	thymus
31	chr6:36618000-36621400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:36618200-36619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:36618200-36619400	Weak transcription	Colonic Mucosa	Colon
34	chr6:36618200-36624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:36618200-36627400	Weak transcription	Left Ventricle	heart
36	chr6:36618400-36619000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:36618400-36619000	Enhancers	Fetal Muscle Leg	muscle
38	chr6:36618400-36619600	Weak transcription	Small Intestine	intestine
39	chr6:36618600-36619000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:36618600-36619000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:36618600-36619000	Enhancers	Thymus	Thymus
42	chr6:36618600-36619200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:36618600-36619600	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:36618800-36619000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:36618800-36619600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:36618800-36621800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:36618800-36622800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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