Variant report

Variant	rs3757667
Chromosome Location	chr7:26245784-26245785
allele	A/G
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	chr7:26245731-26246150	K562	blood:	n/a	n/a
2	POLR2A	chr7:26245449-26245804	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26243874..26246408-chr7:26403177..26404813,2	MCF-7	breast:
2	chr7:26245433..26248011-chr7:26331906..26333789,2	K562	blood:
3	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000086300	Chromatin interaction
ENSG00000050344	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10230838	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10265394	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10275247	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10951128	0.82[AMR][1000 genomes]
rs12113404	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12669140	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12672536	0.94[EUR][1000 genomes]
rs12672942	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115547	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391265	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34954459	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3757668	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6461920	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67976730	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798786	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a
6	esv3376986	chr7:26242542-26248102	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	esv3440481	chr7:26242638-26245990	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
8	esv1821097	chr7:26243108-26303403	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26242000-26246200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr7:26242400-26246000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
3	chr7:26242400-26249400	Weak transcription	Stomach Mucosa	stomach
4	chr7:26242600-26245800	Weak transcription	Placenta	Placenta
5	chr7:26242600-26245800	Transcr. at gene 5' and 3'	A549	lung
6	chr7:26242600-26246600	Weak transcription	Pancreas	Pancrea
7	chr7:26242600-26247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:26242600-26247200	Weak transcription	Lung	lung
9	chr7:26242600-26249200	Weak transcription	Gastric	stomach
10	chr7:26242600-26249400	Weak transcription	Esophagus	oesophagus
11	chr7:26242800-26246400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:26242800-26254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:26243600-26246400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:26243600-26246600	Weak transcription	Right Ventricle	heart
15	chr7:26243600-26249400	Weak transcription	Aorta	Aorta
16	chr7:26243800-26246400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr7:26244000-26245800	Enhancers	Fetal Heart	heart
18	chr7:26244200-26246000	Weak transcription	HSMMtube	muscle
19	chr7:26244200-26246200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:26244200-26246400	Weak transcription	Brain Angular Gyrus	brain
21	chr7:26244200-26246400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:26244200-26247200	Weak transcription	Psoas Muscle	Psoas
23	chr7:26244200-26250000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:26244400-26245800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:26244400-26245800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:26244400-26245800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:26244400-26245800	Enhancers	Fetal Brain Male	brain
28	chr7:26244400-26245800	Genic enhancers	Fetal Stomach	stomach
29	chr7:26244400-26246400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:26244400-26246600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:26244400-26246600	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:26244400-26246600	Weak transcription	Ovary	ovary
33	chr7:26244400-26246800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:26244400-26247000	Weak transcription	Spleen	Spleen
35	chr7:26244400-26248800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:26244400-26249200	Weak transcription	Brain Substantia Nigra	brain
37	chr7:26244400-26251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:26244400-26271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:26244600-26245800	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr7:26244600-26246000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:26244600-26246000	Weak transcription	Left Ventricle	heart
42	chr7:26244600-26246400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:26244600-26246600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:26244800-26245800	Transcr. at gene 5' and 3'	Hela-S3	cervix
45	chr7:26244800-26245800	Enhancers	HepG2	liver
46	chr7:26244800-26246000	Weak transcription	Adipose Nuclei	Adipose
47	chr7:26244800-26246000	Weak transcription	Liver	Liver
48	chr7:26244800-26246200	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr7:26244800-26246200	Weak transcription	NH-A	brain
50	chr7:26244800-26246400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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