Variant report

Variant	rs7804319
Chromosome Location	chr7:5704819-5704820
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5533923..5534909-chr7:5704699..5705651,6	K562	blood:
2	chr7:5637430..5639674-chr7:5702754..5705008,2	K562	blood:
3	chr7:5565631..5566156-chr7:5704782..5705541,2	K562	blood:
4	chr7:5630447..5635132-chr7:5701800..5706734,6	K562	blood:
5	chr7:5533964..5535043-chr7:5704773..5705858,5	MCF-7	breast:
6	chr7:5279576..5280498-chr7:5704712..5705607,3	K562	blood:
7	chr7:5704746..5705620-chr7:5717340..5718228,3	MCF-7	breast:
8	chr7:5600700..5604838-chr7:5702679..5706753,5	MCF-7	breast:
9	chr7:5697370..5699882-chr7:5703729..5706961,3	MCF-7	breast:
10	chr7:5600937..5604507-chr7:5703845..5707460,5	MCF-7	breast:
11	chr7:5560449..5565594-chr7:5704070..5706723,4	K562	blood:
12	chr7:5702659..5705852-chr7:5707033..5711502,4	K562	blood:
13	chr7:5610379..5612881-chr7:5704226..5706275,2	K562	blood:
14	chr7:5703574..5706893-chr7:5712842..5714768,3	MCF-7	breast:
15	chr7:5697885..5699964-chr7:5702405..5705157,2	K562	blood:
16	chr7:5602838..5603941-chr7:5704151..5705672,13	K562	blood:
17	chr7:5635670..5636537-chr7:5704737..5705483,2	MCF-7	breast:
18	chr7:5602877..5603826-chr7:5704704..5705692,6	MCF-7	breast:
19	chr7:5573239..5574799-chr7:5704370..5707092,2	K562	blood:
20	chr7:5563689..5568427-chr7:5701312..5705928,6	K562	blood:
21	chr7:5595987..5597732-chr7:5703676..5705264,2	MCF-7	breast:
22	chr7:5702659..5705052-chr7:5710002..5711592,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10241310	0.82[CEU][hapmap]
rs2287593	0.82[CEU][hapmap]
rs35780366	0.95[ASN][1000 genomes]
rs3801016	0.82[CEU][hapmap]
rs3807575	1.00[ASN][1000 genomes]
rs3807580	0.88[JPT][hapmap];0.89[AMR][1000 genomes]
rs3823680	1.00[ASN][1000 genomes]
rs4720640	0.82[CEU][hapmap]
rs57309152	0.84[AMR][1000 genomes]
rs59086001	1.00[ASN][1000 genomes]
rs59987579	1.00[ASN][1000 genomes]
rs60181616	0.89[AMR][1000 genomes]
rs60889993	1.00[ASN][1000 genomes]
rs6959871	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs6960381	0.82[CEU][hapmap]
rs6971289	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73339903	0.89[AMR][1000 genomes]
rs7795879	0.86[JPT][hapmap]
rs7806110	0.88[JPT][hapmap]
rs852375	0.89[JPT][hapmap]
rs852376	0.89[JPT][hapmap]
rs852410	0.82[CEU][hapmap]
rs852415	0.82[CEU][hapmap]
rs852420	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs852441	0.89[JPT][hapmap]
rs852453	0.89[JPT][hapmap]
rs852468	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs852489	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs852516	0.89[JPT][hapmap]
rs8772	0.89[ASN][1000 genomes]
rs9691118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
17	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 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	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
2	chr7:5677200-5707200	Weak transcription	Stomach Mucosa	stomach
3	chr7:5677400-5706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:5679200-5706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:5683600-5710400	Weak transcription	Colonic Mucosa	Colon
6	chr7:5690200-5706000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:5691000-5712000	Weak transcription	Fetal Kidney	kidney
8	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
9	chr7:5692600-5717400	Weak transcription	Hela-S3	cervix
10	chr7:5699200-5723000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:5701600-5706000	Weak transcription	Placenta	Placenta
12	chr7:5702000-5717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:5702200-5705000	Weak transcription	Osteobl	bone
15	chr7:5702200-5707200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:5702400-5705200	Enhancers	Brain Hippocampus Middle	brain
17	chr7:5702400-5707200	Weak transcription	Left Ventricle	heart
18	chr7:5702400-5707200	Weak transcription	Right Ventricle	heart
19	chr7:5702400-5708600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:5702400-5710400	Weak transcription	NHEK	skin
21	chr7:5702400-5712600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:5702400-5717000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:5702400-5721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:5702600-5705000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:5702600-5706000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:5702600-5707200	Weak transcription	HSMMtube	muscle
27	chr7:5702600-5708200	Weak transcription	NH-A	brain
28	chr7:5702600-5710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:5702600-5711600	Weak transcription	Right Atrium	heart
30	chr7:5702600-5717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:5702600-5717200	Weak transcription	Aorta	Aorta
32	chr7:5702600-5717400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:5702600-5717600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:5702600-5718000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:5702800-5705000	Weak transcription	Primary B cells from cord blood	blood
36	chr7:5702800-5705000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:5702800-5706000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:5702800-5706000	Weak transcription	HUVEC	blood vessel
39	chr7:5702800-5706200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:5702800-5707000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:5702800-5707000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:5702800-5707000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:5702800-5707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:5702800-5707000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:5702800-5707000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:5702800-5707000	Weak transcription	Spleen	Spleen
47	chr7:5702800-5707200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:5702800-5707200	Weak transcription	Liver	Liver
49	chr7:5702800-5707200	Weak transcription	Gastric	stomach
50	chr7:5702800-5707200	Weak transcription	Rectal Mucosa Donor 29	rectum

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