Variant report

Variant	rs38733
Chromosome Location	chr7:140705484-140705485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:140705269-140705659	ProgFib	skin:	n/a	n/a
2	CTCF	chr7:140705360-140705510	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:140704276-140705859	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140701510..140704472-chr7:140705422..140707944,2	MCF-7	breast:
2	chr7:140705059..140707957-chr7:140712548..140716287,5	K562	blood:

Variant related genes	Relation type
ENSG00000273081	TF binding region
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1089265	1.00[AFR][1000 genomes]
rs1091557	1.00[AFR][1000 genomes]
rs11764061	0.82[ASW][hapmap];0.81[YRI][hapmap]
rs2079829	1.00[JPT][hapmap]
rs246743	0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs246745	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs246746	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2533300	1.00[JPT][hapmap]
rs38721	0.89[AFR][1000 genomes]
rs38724	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs38727	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs38728	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs38729	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs38737	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs38741	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs38743	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs569881	0.82[ASW][hapmap];0.81[YRI][hapmap]
rs801118	0.97[AFR][1000 genomes]
rs801119	0.97[AFR][1000 genomes]
rs801122	0.93[AFR][1000 genomes]
rs801126	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs38733	TMEM178B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140698600-140713000	Weak transcription	Psoas Muscle	Psoas
2	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:140700600-140705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:140701000-140706600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:140701200-140705600	Weak transcription	Small Intestine	intestine
6	chr7:140701400-140713400	Weak transcription	NHLF	lung
7	chr7:140702000-140707400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:140702000-140709200	Weak transcription	Fetal Kidney	kidney
9	chr7:140702200-140705600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:140702400-140705600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:140702600-140705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:140702800-140713200	Weak transcription	HSMMtube	muscle
13	chr7:140703000-140705600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:140703000-140705600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:140703200-140705800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:140703200-140709400	Weak transcription	HSMM	muscle
17	chr7:140703200-140713800	Weak transcription	Stomach Mucosa	stomach
18	chr7:140703400-140705600	Weak transcription	Left Ventricle	heart
19	chr7:140703400-140705800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:140703400-140705800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:140703400-140706000	Weak transcription	K562	blood
22	chr7:140703400-140713800	Weak transcription	Gastric	stomach
23	chr7:140703600-140706000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:140703600-140706000	Weak transcription	HMEC	breast
25	chr7:140703600-140706200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:140703600-140706600	Weak transcription	Right Ventricle	heart
27	chr7:140703600-140710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:140703600-140713800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:140703600-140713800	Weak transcription	Lung	lung
30	chr7:140703800-140705600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:140703800-140705600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:140703800-140705600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:140703800-140705800	Weak transcription	Pancreas	Pancrea
34	chr7:140703800-140707200	Weak transcription	Spleen	Spleen
35	chr7:140703800-140707400	Weak transcription	Fetal Intestine Small	intestine
36	chr7:140703800-140707600	Weak transcription	HepG2	liver
37	chr7:140703800-140709200	Weak transcription	Osteobl	bone
38	chr7:140704000-140705600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:140704000-140705600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:140704000-140705600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:140704000-140705600	Weak transcription	Brain Angular Gyrus	brain
42	chr7:140704000-140705600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:140704000-140705600	Weak transcription	Placenta	Placenta
44	chr7:140704000-140705800	Weak transcription	Primary B cells from cord blood	blood
45	chr7:140704000-140705800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:140704000-140705800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:140704000-140705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:140704000-140705800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:140704000-140705800	Weak transcription	GM12878-XiMat	blood
50	chr7:140704000-140713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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