Variant report

Variant	rs57237482
Chromosome Location	chr6:149396378-149396379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149376456..149387248-chr6:149393069..149406749,44	MCF-7	breast:
2	chr6:149394698..149396657-chr6:149749436..149751094,2	MCF-7	breast:
3	chr6:149393614..149396694-chr6:149401142..149403800,3	K562	blood:
4	chr6:149350906..149355297-chr6:149396132..149403444,27	MCF-7	breast:
5	chr6:149393800..149396694-chr6:149401142..149403800,2	K562	blood:

Variant related genes	Relation type
ENSG00000236591	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17081680	1.00[EUR][1000 genomes]
rs55816736	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55976567	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58229843	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58877156	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58924506	1.00[EUR][1000 genomes]
rs6909521	1.00[EUR][1000 genomes]
rs6928184	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73599932	1.00[EUR][1000 genomes]
rs73599942	0.80[AFR][1000 genomes]
rs73599945	0.80[AFR][1000 genomes]
rs7740389	1.00[EUR][1000 genomes]
rs7750481	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7752650	1.00[EUR][1000 genomes]
rs7757287	1.00[EUR][1000 genomes]
rs7770540	1.00[EUR][1000 genomes]
rs9485350	1.00[EUR][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	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149354400-149400600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:149362800-149401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:149369000-149398800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:149371400-149396400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:149371800-149397000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:149382200-149400000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:149382800-149401400	Weak transcription	Esophagus	oesophagus
8	chr6:149383000-149397000	Weak transcription	Pancreas	Pancrea
9	chr6:149385200-149404000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:149385600-149396400	Weak transcription	Aorta	Aorta
11	chr6:149385800-149397000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:149386200-149397000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:149386400-149397000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:149386600-149397200	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:149387000-149397000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:149387400-149399800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:149387400-149401400	Weak transcription	Lung	lung
18	chr6:149387400-149404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:149387600-149397000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:149387600-149397000	Weak transcription	Spleen	Spleen
21	chr6:149387600-149401800	Weak transcription	Brain Substantia Nigra	brain
22	chr6:149387800-149401000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:149387800-149401000	Weak transcription	Brain Anterior Caudate	brain
24	chr6:149387800-149401000	Weak transcription	Fetal Lung	lung
25	chr6:149388000-149397000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:149388200-149400400	Weak transcription	Placenta	Placenta
27	chr6:149388600-149396400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:149391600-149397800	Weak transcription	Adipose Nuclei	Adipose
29	chr6:149391600-149400800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:149391800-149397200	Weak transcription	Fetal Intestine Small	intestine
31	chr6:149392800-149398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:149393600-149396400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:149394000-149397400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:149394600-149399000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:149394600-149399200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr6:149394800-149396400	Strong transcription	Fetal Stomach	stomach
37	chr6:149394800-149396600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:149394800-149397000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:149394800-149398800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:149395000-149396400	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr6:149395000-149397000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:149395000-149399000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:149395000-149399000	Enhancers	HepG2	liver
44	chr6:149395000-149415000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:149395200-149397000	Weak transcription	Ovary	ovary
46	chr6:149395200-149397000	Weak transcription	HSMMtube	muscle
47	chr6:149395400-149397000	Weak transcription	Hela-S3	cervix
48	chr6:149395400-149397800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr6:149395400-149399000	Strong transcription	Primary B cells from cord blood	blood
50	chr6:149395600-149398800	Enhancers	Dnd41	blood

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