Variant report

Variant	rs60938436
Chromosome Location	chr6:45414370-45414371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45412401..45414815-chr6:45415090..45418058,3	K562	blood:
2	chr6:45411583..45414532-chr6:45553284..45556066,2	MCF-7	breast:
3	chr6:45344606..45346855-chr6:45412406..45414659,2	K562	blood:
4	chr6:45387748..45391708-chr6:45411160..45414695,4	MCF-7	breast:
5	chr6:45391466..45393363-chr6:45413859..45416202,2	MCF-7	breast:
6	chr6:45403577..45407385-chr6:45411377..45414376,7	K562	blood:
7	chr6:45412131..45416669-chr6:45417302..45422043,11	K562	blood:
8	chr6:45344177..45348784-chr6:45412133..45417901,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58116380	1.00[EUR][1000 genomes]
rs73444679	1.00[EUR][1000 genomes]
rs73448149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73450281	1.00[EUR][1000 genomes]
rs73455393	1.00[EUR][1000 genomes]
rs7759853	1.00[EUR][1000 genomes]
rs9463101	1.00[EUR][1000 genomes]
rs9463104	1.00[EUR][1000 genomes]
rs9472510	1.00[EUR][1000 genomes]
rs961035	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45399400-45423600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:45405200-45417200	Weak transcription	Spleen	Spleen
3	chr6:45405600-45417400	Genic enhancers	Dnd41	blood
4	chr6:45407200-45418200	Weak transcription	Gastric	stomach
5	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:45411200-45416200	Weak transcription	Lung	lung
7	chr6:45411800-45416200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:45412000-45415600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:45412000-45416600	Enhancers	Small Intestine	intestine
10	chr6:45412200-45414600	Enhancers	Primary B cells from cord blood	blood
11	chr6:45412200-45416000	Enhancers	Fetal Lung	lung
12	chr6:45412200-45416400	Enhancers	NH-A	brain
13	chr6:45412400-45415200	Enhancers	HMEC	breast
14	chr6:45412400-45416000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:45412400-45416000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:45412400-45417600	Genic enhancers	Osteobl	bone
17	chr6:45412600-45416400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:45412600-45417200	Enhancers	Adipose Nuclei	Adipose
19	chr6:45413000-45414800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:45413000-45415000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:45413000-45415000	Enhancers	Stomach Mucosa	stomach
22	chr6:45413000-45415200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:45413000-45415200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:45413000-45415800	Enhancers	Fetal Brain Male	brain
25	chr6:45413000-45416400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:45413200-45414400	Enhancers	Fetal Intestine Small	intestine
27	chr6:45413200-45414800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:45413200-45415000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:45413200-45415000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:45413200-45416200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:45413200-45416200	Enhancers	Fetal Heart	heart
32	chr6:45413400-45417200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr6:45413400-45423400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:45413600-45414400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:45413600-45415600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:45413600-45416200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:45413600-45417000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:45413800-45414400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:45413800-45418000	Weak transcription	Primary T cells from cord blood	blood
40	chr6:45413800-45418000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr6:45414000-45414400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr6:45414000-45414400	Weak transcription	Right Ventricle	heart
43	chr6:45414000-45414800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:45414000-45414800	Weak transcription	Left Ventricle	heart
45	chr6:45414000-45415000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:45414000-45415600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:45414000-45415600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:45414000-45415600	Weak transcription	Fetal Thymus	thymus
49	chr6:45414000-45415600	Weak transcription	Right Atrium	heart
50	chr6:45414000-45415800	Enhancers	HUES48 Cell Line	embryonic stem cell

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