Variant report

Variant	rs210140
Chromosome Location	chr6:33544293-33544294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33538816..33540942-chr6:33543611..33545834,3	MCF-7	breast:
2	chr6:33538231..33539799-chr6:33543255..33545002,2	K562	blood:
3	chr6:33541749..33544429-chr6:33546198..33547784,2	MCF-7	breast:
4	chr6:33543423..33546353-chr6:33546588..33548866,2	K562	blood:

Variant related genes	Relation type
ENSG00000030110	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs210139	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs210141	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs210145	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs210146	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs210148	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs513349	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs210140	BAK1	cis	Muscle Skeletal	GTEx
rs210140	BAK1	cis	Whole Blood	GTEx
rs210140	BAK1	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33539200-33547200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:33539600-33546200	Weak transcription	NHDF-Ad	bronchial
3	chr6:33539600-33546400	Weak transcription	Fetal Brain Male	brain
4	chr6:33539600-33547000	Weak transcription	Fetal Kidney	kidney
5	chr6:33539800-33544400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:33539800-33544400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:33539800-33545400	Strong transcription	Fetal Intestine Small	intestine
8	chr6:33539800-33546400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:33539800-33547000	Weak transcription	Psoas Muscle	Psoas
10	chr6:33540000-33545000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:33540000-33545000	Weak transcription	Right Atrium	heart
12	chr6:33540000-33546400	Strong transcription	Fetal Stomach	stomach
13	chr6:33540200-33544800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:33540200-33545000	Strong transcription	Lung	lung
15	chr6:33540200-33545800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:33540200-33545800	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:33540200-33546000	Weak transcription	Fetal Heart	heart
18	chr6:33540400-33544400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:33540400-33544400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr6:33540400-33544600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:33540400-33544600	Strong transcription	Fetal Thymus	thymus
22	chr6:33540400-33544800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:33540800-33544600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:33540800-33544600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:33540800-33544600	Strong transcription	Adipose Nuclei	Adipose
26	chr6:33541000-33544600	Strong transcription	Colonic Mucosa	Colon
27	chr6:33541000-33544800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:33541000-33545200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:33541000-33545400	Strong transcription	Brain Germinal Matrix	brain
30	chr6:33541200-33544400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:33541200-33544400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:33541200-33544600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr6:33541200-33544600	Strong transcription	Spleen	Spleen
34	chr6:33541200-33544800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr6:33541200-33545000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr6:33541200-33545000	Strong transcription	Dnd41	blood
37	chr6:33541200-33545800	Strong transcription	Fetal Brain Female	brain
38	chr6:33541200-33546000	Strong transcription	Osteobl	bone
39	chr6:33541200-33546400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:33541400-33544400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:33541400-33544400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:33541400-33544600	Strong transcription	Thymus	Thymus
43	chr6:33541400-33545200	Strong transcription	Left Ventricle	heart
44	chr6:33541400-33545400	Strong transcription	Aorta	Aorta
45	chr6:33541600-33544400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:33541600-33544600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:33541600-33544600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:33541600-33545000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:33541600-33545000	Strong transcription	Pancreas	Pancrea
50	chr6:33541600-33545200	Strong transcription	H1 Cell Line	embryonic stem cell

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