Variant report

Variant	rs7794459
Chromosome Location	chr7:6490012-6490013
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	chr7:6489471-6490054	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr7:6489955-6490528	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:6486379-6490190	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6445380..6448087-chr7:6488948..6490884,2	K562	blood:
2	chr7:6488240..6490209-chr7:6490613..6492203,2	MCF-7	breast:
3	chr7:6486266..6487977-chr7:6489365..6491007,2	MCF-7	breast:

Variant related genes	Relation type
DAGLB	TF binding region
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12670808	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12671027	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971152	chr7:6485642-6509340	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3426697	chr7:6489447-6490253	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3478235	chr7:6489516-6490142	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3478236	chr7:6489516-6490142	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6488200-6490600	Enhancers	Placenta	Placenta
2	chr7:6488200-6492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:6488200-6493200	Weak transcription	HMEC	breast
4	chr7:6488200-6493200	Weak transcription	HSMM	muscle
5	chr7:6488200-6493200	Weak transcription	NH-A	brain
6	chr7:6488200-6493200	Weak transcription	NHLF	lung
7	chr7:6488200-6499600	Weak transcription	Lung	lung
8	chr7:6488200-6499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:6488200-6499800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:6488200-6500200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:6488200-6500800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:6488400-6491200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:6488400-6500200	Weak transcription	HSMMtube	muscle
14	chr7:6488400-6505200	Weak transcription	Fetal Brain Male	brain
15	chr7:6488400-6505600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:6488400-6505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:6488600-6499800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:6488600-6500000	Weak transcription	Primary T cells from cord blood	blood
19	chr7:6488800-6492800	Weak transcription	Osteobl	bone
20	chr7:6488800-6493000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:6488800-6493200	Weak transcription	NHDF-Ad	bronchial
22	chr7:6488800-6499800	Weak transcription	Fetal Brain Female	brain
23	chr7:6488800-6499800	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:6488800-6500000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:6488800-6500000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:6488800-6500000	Weak transcription	Adipose Nuclei	Adipose
27	chr7:6488800-6500000	Weak transcription	Liver	Liver
28	chr7:6488800-6500000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:6488800-6500200	Weak transcription	Brain Germinal Matrix	brain
30	chr7:6488800-6500200	Weak transcription	Spleen	Spleen
31	chr7:6488800-6500800	Weak transcription	Primary B cells from cord blood	blood
32	chr7:6488800-6500800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:6488800-6501000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:6488800-6505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:6489000-6490400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:6489000-6490800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:6489000-6490800	Weak transcription	Fetal Intestine Large	intestine
40	chr7:6489000-6492000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:6489000-6493200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:6489000-6493200	Weak transcription	NHEK	skin
43	chr7:6489000-6499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:6489000-6499800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:6489000-6500000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:6489000-6500000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:6489000-6500000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:6489000-6500000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:6489000-6500200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:6489000-6500200	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links