Variant report

Variant	rs57644975
Chromosome Location	chr6:145012317-145012318
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11155366	1.00[ASN][1000 genomes]
rs17074101	0.85[AMR][1000 genomes]
rs17191984	1.00[ASN][1000 genomes]
rs4130560	0.85[AMR][1000 genomes]
rs41435047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925510	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938391	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9497046	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144981200-145031000	Weak transcription	Placenta	Placenta
2	chr6:144983000-145024600	Weak transcription	Fetal Kidney	kidney
3	chr6:144996600-145018400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:144996600-145052400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:144997000-145017600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:144997200-145018000	Weak transcription	NHLF	lung
7	chr6:144999400-145013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:144999400-145025400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:145000800-145025400	Weak transcription	HSMM	muscle
10	chr6:145002400-145013200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:145002800-145018000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:145004400-145047000	Weak transcription	HSMMtube	muscle
13	chr6:145005000-145017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:145005000-145031000	Weak transcription	HUVEC	blood vessel
15	chr6:145005800-145017400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:145008400-145021200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:145009000-145013000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:145009000-145013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:145009000-145013200	Weak transcription	Fetal Lung	lung
20	chr6:145009000-145029600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:145009000-145047000	Weak transcription	Esophagus	oesophagus
22	chr6:145009200-145013000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:145009200-145013200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:145009200-145013200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:145009200-145016600	Weak transcription	Liver	Liver
26	chr6:145009200-145018000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:145009400-145012800	Strong transcription	Primary T cells from cord blood	blood
28	chr6:145009800-145013600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:145010000-145012400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr6:145010000-145012400	Strong transcription	Fetal Stomach	stomach
31	chr6:145010000-145012600	Strong transcription	Fetal Intestine Small	intestine
32	chr6:145010000-145013600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr6:145010200-145012600	Strong transcription	Primary B cells from cord blood	blood
34	chr6:145010200-145012600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:145010400-145013200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:145010400-145029600	Weak transcription	Aorta	Aorta
37	chr6:145010600-145012800	Strong transcription	Fetal Thymus	thymus
38	chr6:145010600-145047000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:145010800-145013600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:145010800-145031000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:145010800-145031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:145011000-145027800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:145011000-145052600	Weak transcription	Ovary	ovary
44	chr6:145011200-145013200	Weak transcription	Fetal Intestine Large	intestine
45	chr6:145011200-145029600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:145011200-145035200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:145011600-145013200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr6:145011600-145016600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:145011600-145021200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:145011600-145023000	Weak transcription	Fetal Heart	heart

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