Variant report

Variant	rs852418
Chromosome Location	chr7:5702912-5702913
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5600355..5603301-chr7:5701063..5703061,2	K562	blood:
2	chr7:5637430..5639674-chr7:5702754..5705008,2	K562	blood:
3	chr7:5694848..5697610-chr7:5699899..5703275,3	K562	blood:
4	chr7:5630447..5635132-chr7:5701800..5706734,6	K562	blood:
5	chr7:5701115..5703280-chr7:5705262..5706862,2	K562	blood:
6	chr7:5562588..5565706-chr7:5701527..5703521,3	K562	blood:
7	chr7:5633053..5635244-chr7:5701549..5703673,2	K562	blood:
8	chr7:5594716..5597208-chr7:5701893..5703760,2	MCF-7	breast:
9	chr7:5600700..5604838-chr7:5702679..5706753,5	MCF-7	breast:
10	chr7:5702659..5705852-chr7:5707033..5711502,4	K562	blood:
11	chr7:5638174..5640538-chr7:5702436..5704254,2	K562	blood:
12	chr7:5697885..5699964-chr7:5702405..5705157,2	K562	blood:
13	chr7:5563689..5568427-chr7:5701312..5705928,6	K562	blood:
14	chr7:5702659..5705052-chr7:5710002..5711592,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000228974	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000272719	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10225845	0.89[EUR][1000 genomes]
rs10271741	0.81[ASN][1000 genomes]
rs10807950	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10951961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11763027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1640231	0.89[ASN][1000 genomes]
rs1640234	1.00[JPT][hapmap]
rs1725186	1.00[ASN][1000 genomes]
rs1725187	1.00[ASN][1000 genomes]
rs1990835	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2008418	0.81[ASN][1000 genomes]
rs2008425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2112008	0.94[ASN][1000 genomes]
rs2161012	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2345863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2345864	0.94[ASN][1000 genomes]
rs2881234	0.82[ASN][1000 genomes]
rs28874635	0.81[ASN][1000 genomes]
rs2908430	1.00[ASN][1000 genomes]
rs3735288	1.00[ASN][1000 genomes]
rs3857756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3943984	0.89[EUR][1000 genomes]
rs4720636	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4720639	0.94[ASN][1000 genomes]
rs4720643	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4720645	0.81[ASN][1000 genomes]
rs4724714	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4724716	0.94[ASN][1000 genomes]
rs4724720	0.94[ASN][1000 genomes]
rs4724721	0.94[ASN][1000 genomes]
rs4724723	0.94[ASN][1000 genomes]
rs4724727	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs4724732	0.81[ASN][1000 genomes]
rs4724734	0.81[ASN][1000 genomes]
rs62455878	0.81[ASN][1000 genomes]
rs6463508	0.94[ASN][1000 genomes]
rs6463515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs66467570	0.81[ASN][1000 genomes]
rs6944453	0.81[ASN][1000 genomes]
rs6945676	0.81[ASN][1000 genomes]
rs6947405	0.94[ASN][1000 genomes]
rs6956990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6969486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6972718	1.00[YRI][hapmap]
rs710939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710940	1.00[ASN][1000 genomes]
rs710942	1.00[ASN][1000 genomes]
rs7784394	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7790499	0.94[ASN][1000 genomes]
rs7794571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7803040	1.00[JPT][hapmap]
rs7809914	0.81[ASN][1000 genomes]
rs852261	0.94[ASN][1000 genomes]
rs852262	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852264	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852384	0.90[AMR][1000 genomes]
rs852393	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852395	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852398	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852401	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs852403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852405	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852407	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs852408	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs852412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852414	0.94[ASN][1000 genomes]
rs852416	1.00[ASN][1000 genomes]
rs852419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852437	1.00[ASN][1000 genomes]
rs852438	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852440	1.00[ASN][1000 genomes]
rs852442	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852449	0.94[ASN][1000 genomes]
rs852451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852455	1.00[ASN][1000 genomes]
rs852458	1.00[ASN][1000 genomes]
rs852459	1.00[ASN][1000 genomes]
rs852460	1.00[ASN][1000 genomes]
rs852462	1.00[ASN][1000 genomes]
rs852465	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852469	1.00[ASN][1000 genomes]
rs852471	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852474	0.94[ASN][1000 genomes]
rs852475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852477	1.00[ASN][1000 genomes]
rs852486	1.00[CEU][hapmap]
rs852487	1.00[ASN][1000 genomes]
rs852490	1.00[ASN][1000 genomes]
rs852514	1.00[ASN][1000 genomes]
rs852515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs852518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852521	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852525	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941016	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	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

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	chr7:5677200-5707200	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	chr7:5689800-5704000	Weak transcription	Fetal Brain Female	brain
7	chr7:5690200-5704000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:5690200-5706000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:5690600-5704200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:5690600-5704200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:5690800-5704000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:5691000-5712000	Weak transcription	Fetal Kidney	kidney
13	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
14	chr7:5692200-5704000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:5692600-5717400	Weak transcription	Hela-S3	cervix
16	chr7:5695400-5703800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:5695400-5703800	Strong transcription	Fetal Stomach	stomach
18	chr7:5695400-5704200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:5695400-5704600	Strong transcription	Fetal Intestine Small	intestine
20	chr7:5696000-5703000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:5697800-5704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:5699200-5723000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:5700200-5703000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:5700200-5704200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:5700600-5703000	Strong transcription	Fetal Intestine Large	intestine
26	chr7:5700600-5703000	Strong transcription	HepG2	liver
27	chr7:5700600-5703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:5700800-5703200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr7:5700800-5704400	Strong transcription	Dnd41	blood
30	chr7:5701200-5703000	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr7:5701200-5703000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:5701400-5703000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr7:5701600-5703000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:5701600-5703600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:5701600-5706000	Weak transcription	Placenta	Placenta
36	chr7:5702000-5703000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:5702000-5717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:5702200-5704000	Weak transcription	Fetal Brain Male	brain
40	chr7:5702200-5704200	Strong transcription	Primary T cells from cord blood	blood
41	chr7:5702200-5704800	Weak transcription	Fetal Heart	heart
42	chr7:5702200-5704800	Weak transcription	A549	lung
43	chr7:5702200-5705000	Weak transcription	Osteobl	bone
44	chr7:5702200-5707200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:5702400-5703000	Enhancers	Brain Substantia Nigra	brain
46	chr7:5702400-5704200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr7:5702400-5704800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:5702400-5704800	Weak transcription	Fetal Thymus	thymus
49	chr7:5702400-5705200	Enhancers	Brain Hippocampus Middle	brain
50	chr7:5702400-5707200	Weak transcription	Left Ventricle	heart

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