Variant report

Variant	rs852409
Chromosome Location	chr7:5713515-5713516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5613282..5616036-chr7:5712313..5714535,2	K562	blood:
2	chr7:5703574..5706893-chr7:5712842..5714768,3	MCF-7	breast:
3	chr7:5710944..5713689-chr7:5718852..5721350,4	K562	blood:
4	chr7:5705184..5710159-chr7:5710704..5713779,6	K562	blood:

Variant related genes	Relation type
ENSG00000237738	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10232762	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10233615	0.88[ASN][1000 genomes]
rs10241310	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10259773	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10275238	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1035331	0.89[ASN][1000 genomes]
rs11531468	0.89[ASN][1000 genomes]
rs12531598	0.88[ASN][1000 genomes]
rs1990836	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2009260	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2287593	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2287595	0.94[ASN][1000 genomes]
rs2345938	0.83[AFR][1000 genomes]
rs28417882	0.84[ASN][1000 genomes]
rs3735289	0.94[ASN][1000 genomes]
rs3801016	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801019	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3823683	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4720640	0.85[ASN][1000 genomes]
rs4720641	0.86[ASN][1000 genomes]
rs4720642	0.86[ASN][1000 genomes]
rs4724713	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4724718	0.83[ASN][1000 genomes]
rs61203027	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6463506	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6463507	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6944143	0.86[ASN][1000 genomes]
rs6956960	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6960381	0.86[ASN][1000 genomes]
rs6960897	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs710941	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7777831	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7796461	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7800691	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7803308	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs852257	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs852258	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs852265	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852266	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852267	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852375	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs852376	0.82[AMR][1000 genomes]
rs852397	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852402	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852410	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852415	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852420	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs852421	0.84[ASN][1000 genomes]
rs852441	0.84[ASN][1000 genomes]
rs852448	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs852450	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs852453	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs852457	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852461	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs852468	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs852472	0.82[AMR][1000 genomes]
rs852489	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs852516	0.84[ASN][1000 genomes]
rs860425	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs888582	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs888583	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9648578	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][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:120 , 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	chr7:5692600-5717400	Weak transcription	Hela-S3	cervix
4	chr7:5699200-5723000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:5702000-5717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:5702400-5717000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:5702400-5721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:5702600-5717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:5702600-5717200	Weak transcription	Aorta	Aorta
11	chr7:5702600-5717400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:5702600-5717600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:5702600-5718000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:5702800-5716200	Weak transcription	HSMM	muscle
15	chr7:5702800-5716800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:5702800-5727200	Weak transcription	Psoas Muscle	Psoas
17	chr7:5706800-5716400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:5707600-5716200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:5707600-5717200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:5707600-5717200	Weak transcription	A549	lung
21	chr7:5707600-5717400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:5707600-5717600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:5707600-5719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:5707600-5721000	Weak transcription	Stomach Mucosa	stomach
25	chr7:5707800-5716200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:5707800-5716400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:5707800-5716400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:5707800-5718000	Weak transcription	K562	blood
29	chr7:5708400-5716200	Weak transcription	HUVEC	blood vessel
30	chr7:5708400-5717200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:5708600-5716400	Weak transcription	Fetal Heart	heart
32	chr7:5708800-5717600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:5709000-5716800	Weak transcription	NH-A	brain
34	chr7:5709200-5716000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:5709200-5717200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:5709200-5717200	Weak transcription	Fetal Intestine Large	intestine
37	chr7:5710600-5717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:5710600-5718200	Weak transcription	Lung	lung
39	chr7:5710800-5717000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:5710800-5717400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:5710800-5717600	Weak transcription	Colonic Mucosa	Colon
42	chr7:5710800-5721200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:5711000-5714800	Weak transcription	Adipose Nuclei	Adipose
44	chr7:5711000-5716800	Weak transcription	Liver	Liver
45	chr7:5711000-5717200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:5711200-5716600	Weak transcription	HMEC	breast
47	chr7:5711200-5716800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:5711400-5717600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:5711600-5713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:5711600-5717400	Weak transcription	Primary hematopoietic stem cells	blood

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