Variant report

Variant	rs72848022
Chromosome Location	chr6:36950485-36950486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36937337..36939387-chr6:36947202..36951298,3	MCF-7	breast:
2	chr6:36949522..36951437-chr6:36961267..36963379,2	K562	blood:
3	chr6:36646638..36649501-chr6:36950264..36953112,2	MCF-7	breast:
4	chr6:36949230..36952224-chr6:37136925..37139369,2	K562	blood:
5	chr6:36853647..36856578-chr6:36948651..36952350,3	K562	blood:
6	chr6:36939940..36941614-chr6:36949156..36950933,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction
ENSG00000137409	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62406520	1.00[ASN][1000 genomes]
rs62406524	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	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5263	chr6:36941625-36972109	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	esv988069	chr6:36942299-36951067	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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	28 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	chr6:36932400-36951800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:36934000-36951600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:36939000-36951200	Strong transcription	HSMM	muscle
4	chr6:36939600-36950600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:36941200-36950600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:36945000-36951200	Enhancers	Fetal Heart	heart
7	chr6:36945400-36951400	Weak transcription	Fetal Kidney	kidney
8	chr6:36946200-36951000	Weak transcription	Small Intestine	intestine
9	chr6:36946200-36952000	Weak transcription	A549	lung
10	chr6:36946400-36951200	Weak transcription	Hela-S3	cervix
11	chr6:36946400-36951600	Weak transcription	HSMMtube	muscle
12	chr6:36946400-36951800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:36946600-36950600	Weak transcription	HUVEC	blood vessel
14	chr6:36946600-36950600	Weak transcription	NHDF-Ad	bronchial
15	chr6:36946600-36951200	Weak transcription	HMEC	breast
16	chr6:36946800-36950600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:36946800-36950800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:36946800-36951000	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr6:36946800-36951800	Enhancers	Brain Angular Gyrus	brain
20	chr6:36946800-36951800	Genic enhancers	Brain Anterior Caudate	brain
21	chr6:36947000-36951400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:36947200-36952000	Enhancers	Colon Smooth Muscle	Colon
23	chr6:36947400-36950800	Genic enhancers	Spleen	Spleen
24	chr6:36947400-36951200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:36947600-36950800	Strong transcription	Fetal Intestine Small	intestine
26	chr6:36947600-36951000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:36947600-36951200	Weak transcription	NH-A	brain
28	chr6:36947600-36951600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:36947600-36951800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:36947800-36951200	Genic enhancers	Dnd41	blood
31	chr6:36948200-36950600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr6:36948200-36950800	Strong transcription	Fetal Intestine Large	intestine
33	chr6:36948600-36950600	Weak transcription	K562	blood
34	chr6:36948800-36950600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:36948800-36951400	Weak transcription	NHEK	skin
36	chr6:36949000-36950600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:36949000-36950800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:36949200-36950600	Weak transcription	Osteobl	bone
39	chr6:36949200-36950800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:36949200-36951000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:36949200-36951000	Weak transcription	Fetal Lung	lung
42	chr6:36949200-36951800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:36949200-36951800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:36949200-36952400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:36949400-36950800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:36949400-36951200	Enhancers	Right Ventricle	heart
47	chr6:36949400-36951200	Strong transcription	Thymus	Thymus
48	chr6:36949400-36951400	Weak transcription	Fetal Brain Male	brain
49	chr6:36949400-36951600	Weak transcription	Psoas Muscle	Psoas
50	chr6:36949400-36951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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