Variant report

Variant	rs563130
Chromosome Location	chr6:13305661-13305662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13271941..13273524-chr6:13304499..13306006,2	K562	blood:
2	chr6:13303438..13305943-chr6:13327957..13331432,3	K562	blood:
3	chr6:13304609..13306210-chr6:13327291..13329441,2	K562	blood:
4	chr6:13304377..13307208-chr6:13327707..13329776,2	MCF-7	breast:
5	chr6:13305462..13308296-chr6:13309650..13311339,2	K562	blood:

Variant related genes	Relation type
ENSG00000145979	Chromatin interaction
ENSG00000112137	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2841558	1.00[JPT][hapmap]
rs542978	1.00[ASW][hapmap]
rs6927426	1.00[MEX][hapmap]
rs73359121	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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13288600-13321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:13288600-13326400	Strong transcription	Primary T cells from cord blood	blood
3	chr6:13289800-13327000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:13290400-13310400	Strong transcription	Dnd41	blood
5	chr6:13291200-13310400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:13291600-13305800	Strong transcription	Thymus	Thymus
7	chr6:13291800-13320400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:13292000-13326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:13292600-13326600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:13298000-13309600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:13298200-13326800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:13299600-13306400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr6:13299600-13326600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:13299800-13326400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:13300000-13306400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:13300200-13309200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr6:13300200-13311800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:13300200-13327000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:13301000-13306400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:13301200-13325400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:13301800-13307600	Weak transcription	Gastric	stomach
22	chr6:13302400-13306400	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:13302600-13305800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:13302600-13305800	Strong transcription	Pancreas	Pancrea
25	chr6:13302800-13307200	Weak transcription	Brain Germinal Matrix	brain
26	chr6:13303400-13307600	Genic enhancers	A549	lung
27	chr6:13303400-13309600	Strong transcription	Fetal Thymus	thymus
28	chr6:13303400-13315200	Weak transcription	Small Intestine	intestine
29	chr6:13303400-13315800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:13303600-13305800	Enhancers	Brain Substantia Nigra	brain
31	chr6:13303600-13308400	Weak transcription	Fetal Kidney	kidney
32	chr6:13303800-13305800	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:13303800-13306200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:13303800-13306200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:13303800-13308400	Strong transcription	Liver	Liver
36	chr6:13303800-13309800	Strong transcription	Fetal Intestine Large	intestine
37	chr6:13303800-13315800	Weak transcription	HMEC	breast
38	chr6:13303800-13327800	Weak transcription	Stomach Mucosa	stomach
39	chr6:13304000-13305800	Enhancers	Right Atrium	heart
40	chr6:13304000-13305800	Strong transcription	NHEK	skin
41	chr6:13304000-13306400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:13304000-13308000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:13304200-13305800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:13304200-13305800	Enhancers	Brain Hippocampus Middle	brain
45	chr6:13304200-13306400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:13304200-13308000	Strong transcription	HSMM	muscle
47	chr6:13304200-13312000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:13304200-13315000	Weak transcription	Hela-S3	cervix
49	chr6:13304200-13315200	Weak transcription	Aorta	Aorta
50	chr6:13304400-13305800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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