Variant report

Variant	rs3807573
Chromosome Location	chr7:5669560-5669561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5668456..5670547-chr7:5682209..5684790,2	MCF-7	breast:
2	chr7:5601679..5603584-chr7:5667818..5670569,2	MCF-7	breast:
3	chr7:5668201..5671136-chr7:5696894..5699870,2	K562	blood:
4	chr7:5665100..5667122-chr7:5668120..5670662,2	K562	blood:
5	chr7:5663656..5665421-chr7:5667676..5669592,2	K562	blood:

Variant related genes	Relation type
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10277535	0.88[ASN][1000 genomes]
rs11560234	0.81[ASN][1000 genomes]
rs28505204	0.94[ASN][1000 genomes]
rs36009719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.94[ASN][1000 genomes]
rs3801004	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs55763392	0.94[ASN][1000 genomes]
rs56062921	0.88[ASN][1000 genomes]
rs57071890	0.94[ASN][1000 genomes]
rs59753167	0.94[ASN][1000 genomes]
rs62455880	0.88[ASN][1000 genomes]
rs62455883	0.94[ASN][1000 genomes]
rs6944358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6954125	0.94[ASN][1000 genomes]
rs6963602	0.88[ASN][1000 genomes]
rs6967635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs73064662	0.94[ASN][1000 genomes]
rs7793041	0.94[ASN][1000 genomes]
rs852452	0.94[ASN][1000 genomes]
rs852454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs852456	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	333 gene(s)	inside rSNPs	diseases
5	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
6	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
7	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
8	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
9	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
10	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
11	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
12	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
13	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
14	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
15	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
18	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3807573	BCHE	trans	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
2	chr7:5647600-5673200	Weak transcription	Fetal Brain Male	brain
3	chr7:5650000-5669600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:5655600-5673200	Weak transcription	Psoas Muscle	Psoas
5	chr7:5659000-5669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:5659000-5672800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr7:5659200-5673400	Strong transcription	Dnd41	blood
8	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:5661400-5669800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:5661800-5673600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:5663000-5673200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:5663000-5673200	Weak transcription	Stomach Mucosa	stomach
13	chr7:5663600-5669800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:5664200-5673600	Weak transcription	Colonic Mucosa	Colon
15	chr7:5664400-5669600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:5664600-5669600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:5664600-5669600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:5664600-5669800	Weak transcription	Brain Substantia Nigra	brain
19	chr7:5664600-5671400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:5664600-5673200	Weak transcription	Aorta	Aorta
21	chr7:5664600-5673400	Weak transcription	Small Intestine	intestine
22	chr7:5664800-5669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:5664800-5669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:5664800-5671400	Weak transcription	Pancreas	Pancrea
25	chr7:5665000-5669600	Weak transcription	Fetal Brain Female	brain
26	chr7:5665000-5669600	Weak transcription	Left Ventricle	heart
27	chr7:5665000-5670800	Weak transcription	Fetal Lung	lung
28	chr7:5665000-5671600	Weak transcription	Esophagus	oesophagus
29	chr7:5665000-5673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:5665200-5669600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:5665200-5669600	Weak transcription	Spleen	Spleen
32	chr7:5665200-5671000	Weak transcription	Gastric	stomach
33	chr7:5665200-5671400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:5665400-5669600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:5665400-5670200	Weak transcription	Brain Angular Gyrus	brain
36	chr7:5665400-5673200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:5665600-5669600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:5665600-5670000	Weak transcription	Placenta	Placenta
39	chr7:5665800-5669600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:5665800-5670200	Weak transcription	HepG2	liver
41	chr7:5665800-5671400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:5666000-5669600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:5666000-5670000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:5666000-5670400	Weak transcription	Ovary	ovary
45	chr7:5666000-5671400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:5666000-5673600	Strong transcription	Fetal Intestine Small	intestine
47	chr7:5666200-5669600	Weak transcription	Fetal Thymus	thymus
48	chr7:5666200-5669800	Weak transcription	Adipose Nuclei	Adipose
49	chr7:5666200-5670000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:5666200-5674200	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links