Variant report

Variant	rs2345938
Chromosome Location	chr7:5746503-5746504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5744349..5746667-chr7:5749074..5751535,3	MCF-7	breast:
2	chr7:5631726..5635641-chr7:5742427..5748005,7	K562	blood:
3	chr7:5736261..5739455-chr7:5742456..5746657,4	MCF-7	breast:
4	chr7:5744434..5746074-chr7:5746190..5748350,2	K562	blood:
5	chr7:5744121..5745807-chr7:5745836..5747712,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10233615	0.84[AFR][1000 genomes]
rs10241310	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10259773	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1035331	0.84[AFR][1000 genomes]
rs11531468	0.88[AFR][1000 genomes]
rs12531598	0.83[AFR][1000 genomes]
rs1990836	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2009260	0.97[AFR][1000 genomes]
rs2287593	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs28519438	0.89[ASN][1000 genomes]
rs34865088	0.82[ASN][1000 genomes]
rs3801012	0.92[ASN][1000 genomes]
rs3801016	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3801019	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3807580	0.95[ASN][1000 genomes]
rs3823683	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4724713	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57309152	0.95[ASN][1000 genomes]
rs58364611	0.89[ASN][1000 genomes]
rs58503972	0.85[ASN][1000 genomes]
rs60181616	0.95[ASN][1000 genomes]
rs60372872	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60442234	0.87[ASN][1000 genomes]
rs61033429	1.00[ASN][1000 genomes]
rs61203027	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61210914	0.87[ASN][1000 genomes]
rs61260366	1.00[ASN][1000 genomes]
rs6463506	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6463507	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6463513	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6944627	0.89[ASN][1000 genomes]
rs6951438	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956564	0.92[ASN][1000 genomes]
rs6959871	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6960897	0.92[AFR][1000 genomes]
rs6969585	0.92[ASN][1000 genomes]
rs73339903	0.92[ASN][1000 genomes]
rs73341604	0.92[ASN][1000 genomes]
rs7777831	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7795879	1.00[ASN][1000 genomes]
rs7796461	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7800691	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7803308	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7806110	1.00[ASN][1000 genomes]
rs7809733	0.87[ASN][1000 genomes]
rs852257	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs852258	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs852265	0.92[AFR][1000 genomes]
rs852266	0.88[AFR][1000 genomes]
rs852267	0.88[AFR][1000 genomes]
rs852397	0.91[AFR][1000 genomes]
rs852402	0.85[AFR][1000 genomes]
rs852409	0.83[AFR][1000 genomes]
rs852410	0.87[AFR][1000 genomes]
rs852415	0.86[AFR][1000 genomes]
rs888582	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs888583	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9648578	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9648579	0.87[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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 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	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:5732600-5747600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:5737200-5748400	Weak transcription	Colonic Mucosa	Colon
4	chr7:5737400-5767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:5737600-5774200	Strong transcription	Dnd41	blood
6	chr7:5738000-5748200	Weak transcription	Small Intestine	intestine
7	chr7:5739600-5769600	Strong transcription	Fetal Intestine Large	intestine
8	chr7:5740000-5760800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:5741200-5763600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:5741800-5747600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:5741800-5750200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:5742000-5748200	Weak transcription	Pancreas	Pancrea
13	chr7:5742000-5748400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:5742000-5750200	Weak transcription	Esophagus	oesophagus
15	chr7:5742000-5757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:5742800-5748600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:5743000-5748200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:5743000-5748400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:5743000-5748400	Weak transcription	Aorta	Aorta
20	chr7:5743200-5747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:5743200-5747800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:5743200-5747800	Weak transcription	NHEK	skin
23	chr7:5743200-5748200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:5743200-5748400	Weak transcription	Spleen	Spleen
25	chr7:5743200-5748600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:5743400-5747600	Weak transcription	Hela-S3	cervix
27	chr7:5743600-5748200	Weak transcription	Left Ventricle	heart
28	chr7:5743800-5748200	Weak transcription	Right Ventricle	heart
29	chr7:5744000-5748000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:5744200-5747200	Weak transcription	NHDF-Ad	bronchial
31	chr7:5744200-5747400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:5744200-5747600	Strong transcription	GM12878-XiMat	blood
33	chr7:5744200-5747600	Weak transcription	NHLF	lung
34	chr7:5744200-5747800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:5744200-5747800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:5744200-5747800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr7:5744200-5747800	Weak transcription	Adipose Nuclei	Adipose
38	chr7:5744200-5747800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:5744200-5748000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:5744200-5748000	Weak transcription	Fetal Kidney	kidney
41	chr7:5744200-5748200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:5744200-5748200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:5744200-5748200	Weak transcription	Brain Anterior Caudate	brain
44	chr7:5744200-5748200	Weak transcription	Brain Germinal Matrix	brain
45	chr7:5744200-5748200	Weak transcription	Thymus	Thymus
46	chr7:5744200-5748400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:5744200-5748400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:5744200-5748400	Weak transcription	Brain Angular Gyrus	brain
49	chr7:5744200-5748400	Weak transcription	Brain Substantia Nigra	brain
50	chr7:5744200-5748800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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