Variant report

Variant	rs60004245
Chromosome Location	chr6:13432162-13432163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13426005..13428428-chr6:13430205..13432759,2	K562	blood:
2	chr6:13430517..13435196-chr6:13435654..13440896,5	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16874155	0.86[ASN][1000 genomes]
rs1992387	1.00[ASN][1000 genomes]
rs7739372	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357728	0.85[ASN][1000 genomes]
rs9474179	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13422200-13432800	Weak transcription	NHDF-Ad	bronchial
2	chr6:13423400-13432200	Weak transcription	A549	lung
3	chr6:13423800-13433000	Weak transcription	Pancreas	Pancrea
4	chr6:13425200-13432200	Enhancers	Right Ventricle	heart
5	chr6:13427000-13432800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:13427800-13432200	Weak transcription	Liver	Liver
7	chr6:13428400-13432800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:13428600-13434400	Enhancers	Right Atrium	heart
9	chr6:13428800-13451200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:13429000-13434000	Weak transcription	Colonic Mucosa	Colon
11	chr6:13429000-13436000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:13429200-13433200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:13429200-13436200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:13429400-13432200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:13429400-13432600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:13429400-13434600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr6:13429600-13432600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:13429600-13432600	Weak transcription	Placenta	Placenta
19	chr6:13429600-13432800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:13429600-13434200	Enhancers	Primary T cells from cord blood	blood
21	chr6:13429600-13435400	Weak transcription	Small Intestine	intestine
22	chr6:13429800-13432600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:13429800-13432800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:13429800-13432800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:13429800-13432800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:13429800-13432800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:13429800-13433600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:13429800-13433600	Weak transcription	Fetal Heart	heart
29	chr6:13429800-13436600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:13429800-13436600	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:13430000-13432200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:13430000-13432600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:13430000-13432800	Weak transcription	Lung	lung
34	chr6:13430000-13432800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:13430000-13434000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:13430000-13436600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:13430000-13437800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:13430000-13445000	Weak transcription	NHEK	skin
39	chr6:13430400-13432200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:13430600-13435800	Enhancers	Primary B cells from peripheral blood	blood
41	chr6:13430800-13432600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:13430800-13434200	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:13430800-13434200	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:13430800-13436400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr6:13431000-13432200	Weak transcription	Spleen	Spleen
46	chr6:13431000-13432400	Enhancers	Brain Substantia Nigra	brain
47	chr6:13431000-13433000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:13431000-13433000	Enhancers	Stomach Smooth Muscle	stomach
49	chr6:13431000-13434600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:13431200-13432200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links