Variant report

Variant	rs852398
Chromosome Location	chr7:5718817-5718818
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:5630491..5634130-chr7:5717559..5720896,4	K562	blood:
2	chr7:5696126..5698767-chr7:5718167..5720079,2	MCF-7	breast:
3	chr7:5708885..5710643-chr7:5716339..5719013,2	K562	blood:
4	chr7:5568974..5571444-chr7:5717596..5719378,2	K562	blood:
5	chr7:5716923..5718931-chr7:5730393..5732059,2	MCF-7	breast:
6	chr7:5533410..5535959-chr7:5717586..5719394,2	K562	blood:
7	chr7:5631406..5634130-chr7:5717559..5720896,4	K562	blood:
8	chr7:5567652..5570729-chr7:5716334..5720767,4	MCF-7	breast:
9	chr7:5603045..5605168-chr7:5716278..5719037,2	MCF-7	breast:
10	chr7:5707603..5710385-chr7:5717513..5719879,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10225845	0.89[EUR][1000 genomes]
rs10271741	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10807950	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951961	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11763027	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1628786	1.00[AMR][1000 genomes]
rs1640231	0.83[ASN][1000 genomes]
rs1725186	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1725187	0.94[ASN][1000 genomes]
rs1990835	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008418	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2008425	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2112008	1.00[ASN][1000 genomes]
rs2161012	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161017	0.83[AMR][1000 genomes]
rs2345665	0.83[AMR][1000 genomes]
rs2345863	0.87[ASN][1000 genomes]
rs2345864	1.00[ASN][1000 genomes]
rs2693951	1.00[AMR][1000 genomes]
rs2881234	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28874635	0.87[ASN][1000 genomes]
rs2908430	0.94[ASN][1000 genomes]
rs3735288	0.94[ASN][1000 genomes]
rs3857756	0.88[ASN][1000 genomes]
rs3943984	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4720636	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720639	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4720643	0.80[ASN][1000 genomes]
rs4720645	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4724714	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724716	1.00[ASN][1000 genomes]
rs4724720	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4724721	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4724723	1.00[ASN][1000 genomes]
rs4724727	0.87[ASN][1000 genomes]
rs4724732	0.87[ASN][1000 genomes]
rs4724734	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62455878	0.87[ASN][1000 genomes]
rs6463508	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6463509	0.83[ASN][1000 genomes]
rs6463512	0.83[ASN][1000 genomes]
rs6463515	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs66467570	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6944453	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6945676	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6947405	1.00[ASN][1000 genomes]
rs6953412	0.83[AMR][1000 genomes]
rs6956990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957150	0.83[AMR][1000 genomes]
rs6969486	0.87[ASN][1000 genomes]
rs710939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs710940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs710942	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7784394	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790499	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7792177	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7794571	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7809914	0.87[ASN][1000 genomes]
rs852260	0.83[AMR][1000 genomes]
rs852261	1.00[ASN][1000 genomes]
rs852262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852377	0.83[AMR][1000 genomes]
rs852378	0.94[ASN][1000 genomes]
rs852381	1.00[AMR][1000 genomes]
rs852383	1.00[AMR][1000 genomes]
rs852393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852395	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852411	1.00[ASN][1000 genomes]
rs852412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852414	1.00[ASN][1000 genomes]
rs852416	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852418	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs852437	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852438	0.94[ASN][1000 genomes]
rs852439	0.94[ASN][1000 genomes]
rs852440	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852442	0.94[ASN][1000 genomes]
rs852443	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852449	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852455	0.94[ASN][1000 genomes]
rs852458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852459	0.94[ASN][1000 genomes]
rs852460	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852462	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852466	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852467	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852469	0.94[ASN][1000 genomes]
rs852471	0.94[ASN][1000 genomes]
rs852474	1.00[ASN][1000 genomes]
rs852475	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852477	0.94[ASN][1000 genomes]
rs852480	1.00[AMR][1000 genomes]
rs852487	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852490	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852495	1.00[AMR][1000 genomes]
rs852509	0.85[AMR][1000 genomes]
rs852514	0.94[ASN][1000 genomes]
rs852515	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs852518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852521	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852536	1.00[AMR][1000 genomes]
rs852541	1.00[AMR][1000 genomes]
rs852543	1.00[AMR][1000 genomes]
rs852544	1.00[AMR][1000 genomes]
rs941016	0.85[AMR][1000 genomes];0.94[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	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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 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	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
3	chr7:5699200-5723000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:5702400-5721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:5702800-5727200	Weak transcription	Psoas Muscle	Psoas
7	chr7:5707600-5719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:5707600-5721000	Weak transcription	Stomach Mucosa	stomach
9	chr7:5710800-5721200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:5712600-5719200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:5713000-5730200	Weak transcription	Gastric	stomach
12	chr7:5713200-5719000	Weak transcription	Esophagus	oesophagus
13	chr7:5713200-5721400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:5713200-5724000	Weak transcription	Brain Germinal Matrix	brain
15	chr7:5713400-5720600	Weak transcription	HepG2	liver
16	chr7:5714000-5719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:5715400-5723200	Enhancers	Adipose Nuclei	Adipose
18	chr7:5716000-5719000	Enhancers	Left Ventricle	heart
19	chr7:5716000-5720000	Enhancers	Rectal Smooth Muscle	rectum
20	chr7:5716000-5720600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:5716200-5719800	Genic enhancers	Fetal Stomach	stomach
22	chr7:5716200-5721800	Enhancers	Right Atrium	heart
23	chr7:5716400-5719000	Enhancers	GM12878-XiMat	blood
24	chr7:5716400-5719600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:5716400-5722000	Enhancers	Fetal Heart	heart
26	chr7:5716600-5719200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:5716600-5719800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr7:5716600-5722400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:5716800-5719600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr7:5716800-5719800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:5716800-5719800	Enhancers	Fetal Thymus	thymus
32	chr7:5716800-5720000	Enhancers	Liver	Liver
33	chr7:5716800-5724000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:5717000-5720200	Genic enhancers	Fetal Intestine Small	intestine
35	chr7:5717000-5723200	Enhancers	Placenta	Placenta
36	chr7:5717200-5719000	Enhancers	Fetal Intestine Large	intestine
37	chr7:5717200-5719400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:5717200-5723400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:5717200-5726600	Genic enhancers	Fetal Muscle Leg	muscle
40	chr7:5717400-5719400	Genic enhancers	Primary T cells from cord blood	blood
41	chr7:5717400-5719600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:5717400-5719600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:5717400-5719600	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr7:5717400-5719800	Enhancers	Primary hematopoietic stem cells	blood
45	chr7:5717400-5719800	Enhancers	Fetal Lung	lung
46	chr7:5717400-5720600	Enhancers	Primary B cells from cord blood	blood
47	chr7:5717400-5720800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:5717400-5723000	Weak transcription	Aorta	Aorta
49	chr7:5717400-5723800	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:5717600-5719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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