Variant report

Variant	rs6903143
Chromosome Location	chr6:33561526-33561527
allele	C/T
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	STAT5A	chr6:33559941-33561548	GM12878	blood:	n/a	n/a
2	NFIC	chr6:33560447-33561563	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr6:33560163-33561554	ECC-1	luminal epithelium:	n/a	chr6:33561174-33561190
4	TCF12	chr6:33560391-33561581	ECC-1	luminal epithelium:	n/a	n/a
5	MTA3	chr6:33559812-33561588	GM12878	blood:	n/a	n/a
6	NFIC	chr6:33560471-33561547	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33556084..33559190-chr6:33561463..33564085,3	K562	blood:
2	chr6:33555432..33562879-chr6:33670455..33680174,12	K562	blood:

Variant related genes	Relation type
LINC00336	TF binding region
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11964131	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846856	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846857	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846858	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846859	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846861	0.94[AFR][1000 genomes]
rs3857560	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4460206	1.00[AMR][1000 genomes]
rs5745578	1.00[AMR][1000 genomes]
rs5745579	1.00[AMR][1000 genomes]
rs5745580	1.00[AMR][1000 genomes]
rs5745597	1.00[AMR][1000 genomes]
rs60691479	1.00[AMR][1000 genomes]
rs6905720	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs6909769	1.00[AMR][1000 genomes]
rs6928531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7744691	1.00[AMR][1000 genomes]
rs7761085	1.00[AMR][1000 genomes]
rs7762586	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7765464	1.00[AMR][1000 genomes]
rs7769914	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33558600-33567200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:33559000-33567200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:33559400-33562600	Weak transcription	A549	lung
4	chr6:33559400-33563000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:33559400-33567200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:33559600-33563000	Weak transcription	Hela-S3	cervix
7	chr6:33559600-33569800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:33559800-33562600	Weak transcription	HepG2	liver
9	chr6:33560200-33561600	Flanking Active TSS	GM12878-XiMat	blood
10	chr6:33560200-33561600	Enhancers	NHLF	lung
11	chr6:33560400-33561600	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr6:33560400-33561600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr6:33560400-33561600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr6:33560600-33561600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr6:33560600-33561600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:33560600-33561600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:33560600-33561600	Enhancers	Pancreas	Pancrea
18	chr6:33560600-33561600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr6:33560800-33561600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:33560800-33561600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr6:33561000-33561600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:33561000-33561600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr6:33561000-33561600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr6:33561000-33561600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
25	chr6:33561000-33561600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr6:33561200-33561600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr6:33561200-33561600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr6:33561200-33561600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:33561200-33561600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr6:33561200-33561600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr6:33561200-33561600	Enhancers	Fetal Kidney	kidney
32	chr6:33561200-33561800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:33561200-33562400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:33561200-33563000	Weak transcription	NHDF-Ad	bronchial
35	chr6:33561200-33567200	Weak transcription	Left Ventricle	heart
36	chr6:33561400-33561600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr6:33561400-33561600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:33561400-33561600	Enhancers	Primary hematopoietic stem cells	blood
39	chr6:33561400-33561600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:33561400-33561600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr6:33561400-33561600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:33561400-33561600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr6:33561400-33561600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:33561400-33561600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:33561400-33561600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:33561400-33561600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:33561400-33561600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:33561400-33561600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:33561400-33561600	Active TSS	Colonic Mucosa	Colon
50	chr6:33561400-33561600	Enhancers	Fetal Intestine Large	intestine

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