Variant report

Variant	rs3748098
Chromosome Location	chr7:150935430-150935431
allele	C/G/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	chr7:150934336-150935849	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:150935277-150935581	K562	blood:	n/a	n/a
3	POLR2A	chr7:150935260-150935857	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:150934272-150935887	GM12892	blood:	n/a	n/a
5	POLR2A	chr7:150934195-150935838	K562	blood:	n/a	n/a
6	POLR2A	chr7:150935363-150940669	U87	brain:	n/a	n/a
7	POLR2A	chr7:150933683-150937991	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:150932336-150940594	K562	blood:	n/a	n/a
9	POLR2A	chr7:150932457-150941238	U87	brain:	n/a	n/a
10	POLR2A	chr7:150935400-150935858	GM12891	blood:	n/a	n/a
11	POLR2A	chr7:150935395-150935705	K562	blood:	n/a	n/a
12	POLR2A	chr7:150934281-150935761	U87	brain:	n/a	n/a
13	POLR2A	chr7:150935385-150935865	GM12891	blood:	n/a	n/a
14	POLR2A	chr7:150935107-150935558	IMR90	lung:	n/a	n/a
15	POLR2A	chr7:150933192-150935913	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:150935368-150935528	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150933071..150935607-chr7:151215540..151217863,2	K562	blood:

Variant related genes	Relation type
ENSG00000272661	TF binding region
MIR671	TF binding region
ENSG00000106615	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1065071	0.81[ASN][1000 genomes]
rs12113924	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531871	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532489	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536244	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538823	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13227935	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239059	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13239247	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563636	0.81[ASN][1000 genomes]
rs34129956	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34163999	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34770061	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34821030	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35041510	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35093688	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35292078	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35302282	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35746260	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35833042	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3800794	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55968735	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66608097	0.97[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67128841	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784344	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786151	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150930600-150940000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150931000-150944600	Weak transcription	Fetal Kidney	kidney
3	chr7:150931200-150935600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:150931200-150936200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:150931200-150936400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:150931200-150937400	Weak transcription	Right Atrium	heart
7	chr7:150931200-150938200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:150931200-150940000	Strong transcription	Fetal Intestine Small	intestine
9	chr7:150931200-150940000	Weak transcription	Stomach Mucosa	stomach
10	chr7:150931200-150940200	Strong transcription	Fetal Stomach	stomach
11	chr7:150931400-150936600	Weak transcription	Fetal Heart	heart
12	chr7:150931400-150936800	Strong transcription	A549	lung
13	chr7:150931400-150937400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:150931400-150937400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:150931400-150939000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:150931400-150939600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:150931400-150939800	Strong transcription	Lung	lung
18	chr7:150931400-150940200	Weak transcription	Small Intestine	intestine
19	chr7:150931400-150940200	Strong transcription	NHLF	lung
20	chr7:150931600-150937200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:150931600-150937400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:150931600-150937800	Strong transcription	Thymus	Thymus
23	chr7:150931600-150939200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr7:150931600-150939200	Strong transcription	Brain Hippocampus Middle	brain
25	chr7:150931600-150939200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:150931600-150939600	Strong transcription	Placenta	Placenta
27	chr7:150931600-150939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:150931600-150939800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:150931600-150940000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:150931600-150940200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:150931600-150940200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:150931600-150940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:150931600-150944400	Weak transcription	Hela-S3	cervix
34	chr7:150931800-150935800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:150931800-150937000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:150931800-150937000	Strong transcription	Brain Cingulate Gyrus	brain
37	chr7:150931800-150937400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:150931800-150938800	Strong transcription	Fetal Intestine Large	intestine
39	chr7:150931800-150938800	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr7:150931800-150939600	Strong transcription	Fetal Brain Female	brain
41	chr7:150932000-150936400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr7:150932000-150936600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:150932000-150936800	Strong transcription	Liver	Liver
44	chr7:150932000-150936800	Strong transcription	Brain Substantia Nigra	brain
45	chr7:150932000-150938400	Strong transcription	Fetal Thymus	thymus
46	chr7:150932000-150938600	Strong transcription	NHDF-Ad	bronchial
47	chr7:150932000-150938800	Strong transcription	Brain Germinal Matrix	brain
48	chr7:150932000-150939000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr7:150932000-150939600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:150932000-150939800	Strong transcription	Ovary	ovary

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