Variant report

Variant	rs59028814
Chromosome Location	chr6:44103019-44103020
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:44099548-44103069	K562	blood:	n/a	chr6:44102133-44102141 chr6:44100938-44100952

No.	Distal block	Cell Line	Cell type
1	chr6:44101660..44104148-chr6:44106994..44109571,3	MCF-7	breast:
2	chr6:44099546..44105774-chr6:44219938..44225862,7	K562	blood:
3	chr6:44102136..44105373-chr6:44223417..44225862,3	K562	blood:
4	chr6:44101463..44104321-chr6:44190509..44192484,2	MCF-7	breast:
5	chr6:44100712..44103659-chr6:44213625..44216259,3	K562	blood:
6	chr6:44101577..44103606-chr6:44104926..44108402,3	MCF-7	breast:

Variant related genes	Relation type
TMEM63B	TF binding region
ENSG00000265700	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000112759	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10428726	0.96[ASN][1000 genomes]
rs10807295	0.96[ASN][1000 genomes]
rs10948122	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948123	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948125	0.96[ASN][1000 genomes]
rs10948126	0.96[ASN][1000 genomes]
rs11966587	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967633	0.96[ASN][1000 genomes]
rs11968386	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525049	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12526662	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664793	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096200	0.96[ASN][1000 genomes]
rs35738079	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs41282654	0.93[ASN][1000 genomes]
rs4711765	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714744	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714749	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862642	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60245793	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691447	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912142	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs700006	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713050	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73733834	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7738970	0.96[ASN][1000 genomes]
rs7771710	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44096400-44106600	Weak transcription	Aorta	Aorta
2	chr6:44096600-44103200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:44096600-44107200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:44096600-44107400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:44096600-44119400	Weak transcription	Right Atrium	heart
6	chr6:44096800-44104800	Weak transcription	HSMM	muscle
7	chr6:44096800-44106800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:44096800-44107400	Weak transcription	GM12878-XiMat	blood
9	chr6:44096800-44119400	Weak transcription	HUVEC	blood vessel
10	chr6:44098000-44107200	Weak transcription	Dnd41	blood
11	chr6:44098000-44114800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:44098000-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:44098000-44119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:44100200-44107400	Weak transcription	Psoas Muscle	Psoas
15	chr6:44100400-44103800	Enhancers	Fetal Lung	lung
16	chr6:44100400-44119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:44101000-44103400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr6:44101200-44119400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:44101400-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:44101600-44104000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:44101600-44104800	Weak transcription	Ovary	ovary
22	chr6:44101600-44104800	Weak transcription	Osteobl	bone
23	chr6:44101600-44106400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:44101600-44106600	Weak transcription	Brain Substantia Nigra	brain
25	chr6:44101600-44107400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:44101600-44107400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:44101600-44107600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:44101600-44108600	Weak transcription	NH-A	brain
29	chr6:44101600-44113600	Weak transcription	Hela-S3	cervix
30	chr6:44101600-44118400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:44101800-44104800	Weak transcription	Brain Anterior Caudate	brain
32	chr6:44101800-44104800	Weak transcription	NHDF-Ad	bronchial
33	chr6:44101800-44105000	Weak transcription	Fetal Kidney	kidney
34	chr6:44101800-44107400	Weak transcription	A549	lung
35	chr6:44101800-44112400	Strong transcription	Fetal Brain Female	brain
36	chr6:44101800-44112600	Strong transcription	Brain Germinal Matrix	brain
37	chr6:44101800-44119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:44102000-44103400	Strong transcription	Primary T cells from cord blood	blood
40	chr6:44102000-44104800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:44102000-44106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:44102000-44107200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:44102000-44107600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:44102000-44109600	Strong transcription	HepG2	liver
45	chr6:44102000-44113400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:44102000-44115200	Weak transcription	Small Intestine	intestine
47	chr6:44102000-44117600	Weak transcription	Fetal Heart	heart
48	chr6:44102000-44118600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:44102000-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:44102200-44103400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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