Variant report

Variant	rs7006741
Chromosome Location	chr8:19175192-19175193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:19175118-19175275	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr8:19175109-19175212	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr8:19175163-19175277	K562	blood:	n/a	n/a
4	RAD21	chr8:19175012-19175327	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:19175160-19175310	BJ	skin:	n/a	n/a
6	CTCF	chr8:19175014-19175346	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:19175120-19175270	HEK293	kidney:	n/a	n/a
8	RAD21	chr8:19175037-19175251	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr8:19174912-19175319	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:19175100-19175250	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19149962..19152072-chr8:19173164..19175700,2	MCF-7	breast:
2	chr19:12789775..12791275-chr8:19175114..19177596,2	MCF-7	breast:

No data

Variant related genes	Relation type
SH2D4A	TF binding region
ENSG00000095059	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2683324	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4921635	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4922018	0.92[ASN][1000 genomes]
rs6997245	0.91[ASN][1000 genomes]
rs6997589	0.90[ASN][1000 genomes]
rs7005125	0.92[ASN][1000 genomes]
rs7005298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv917232	chr8:18585309-19208665	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
11	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv890615	chr8:18989735-19181921	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv890616	chr8:18989735-19197809	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv890621	chr8:19173379-19211220	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19172000-19179600	Weak transcription	Spleen	Spleen
2	chr8:19172200-19179800	Weak transcription	Left Ventricle	heart
3	chr8:19172200-19182600	Weak transcription	Esophagus	oesophagus
4	chr8:19172400-19175800	Enhancers	Pancreas	Pancrea
5	chr8:19172400-19176000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:19172400-19176200	Weak transcription	Fetal Lung	lung
7	chr8:19172400-19176200	Enhancers	Stomach Mucosa	stomach
8	chr8:19172400-19176800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:19172400-19176800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:19172400-19177000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:19172400-19180600	Weak transcription	Fetal Stomach	stomach
12	chr8:19172400-19184800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:19172400-19187800	Weak transcription	Fetal Heart	heart
14	chr8:19172400-19188000	Weak transcription	Right Ventricle	heart
15	chr8:19172400-19202400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:19172600-19181200	Weak transcription	NH-A	brain
17	chr8:19172600-19202800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:19172800-19176800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:19172800-19176800	Weak transcription	Fetal Intestine Large	intestine
20	chr8:19172800-19181600	Weak transcription	Placenta	Placenta
21	chr8:19173000-19176000	Enhancers	HepG2	liver
22	chr8:19173000-19176800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:19173200-19175600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:19173200-19176200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:19173400-19175200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:19173600-19176000	Enhancers	Liver	Liver
27	chr8:19173600-19178800	Weak transcription	NHLF	lung
28	chr8:19173600-19180600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
30	chr8:19173800-19185200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:19173800-19205400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:19174000-19178200	Weak transcription	NHEK	skin
33	chr8:19174000-19223600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:19174200-19175800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:19174200-19176800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:19174200-19177000	Genic enhancers	A549	lung
37	chr8:19174200-19177200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:19174200-19177800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:19174200-19178200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:19174200-19179200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:19174200-19179600	Weak transcription	Lung	lung
42	chr8:19174200-19183400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:19174200-19183400	Weak transcription	HMEC	breast
44	chr8:19174200-19184000	Weak transcription	Aorta	Aorta
45	chr8:19174200-19191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:19174200-19220400	Weak transcription	HSMM	muscle
47	chr8:19174400-19175400	Strong transcription	Osteobl	bone
48	chr8:19174400-19175600	Weak transcription	Ovary	ovary
49	chr8:19174400-19176000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:19174400-19178200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links