Variant report

Variant	rs72686534
Chromosome Location	chr4:120974611-120974612
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120973200..120974897-chr4:120987662..120990383,3	K562	blood:
2	chr4:120568266..120570200-chr4:120973262..120975604,2	K562	blood:
3	chr4:120973210..120976068-chr4:120976112..120978407,2	MCF-7	breast:
4	chr4:120552728..120554364-chr4:120974086..120975727,2	MCF-7	breast:
5	chr4:120973859..120975620-chr4:120985435..120987169,2	K562	blood:
6	chr4:120549176..120551336-chr4:120973371..120974959,2	MCF-7	breast:
7	chr4:120964367..120966016-chr4:120972622..120975603,2	K562	blood:

Variant related genes	Relation type
ENSG00000250938	Chromatin interaction
ENSG00000138735	Chromatin interaction
ENSG00000164109	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10446729	1.00[AFR][1000 genomes]
rs10446730	1.00[AFR][1000 genomes]
rs11777	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12374385	0.81[EUR][1000 genomes]
rs61752609	1.00[AFR][1000 genomes]
rs61752610	1.00[AFR][1000 genomes]
rs6833927	1.00[AFR][1000 genomes]
rs72668809	1.00[AFR][1000 genomes]
rs72668810	1.00[AFR][1000 genomes]
rs72668812	1.00[AFR][1000 genomes]
rs72668814	1.00[AFR][1000 genomes]
rs72668820	1.00[AFR][1000 genomes]
rs72668821	1.00[AFR][1000 genomes]
rs72668824	1.00[AFR][1000 genomes]
rs72668829	1.00[AFR][1000 genomes]
rs72668830	1.00[AFR][1000 genomes]
rs72668835	1.00[AFR][1000 genomes]
rs72668836	1.00[AFR][1000 genomes]
rs72668838	1.00[AFR][1000 genomes]
rs72668839	1.00[AFR][1000 genomes]
rs72668840	1.00[AFR][1000 genomes]
rs72668859	1.00[AFR][1000 genomes]
rs72668868	1.00[AFR][1000 genomes]
rs72668872	1.00[AFR][1000 genomes]
rs72668874	1.00[AFR][1000 genomes]
rs72668875	1.00[AFR][1000 genomes]
rs72668898	1.00[AFR][1000 genomes]
rs72668899	1.00[AFR][1000 genomes]
rs72668902	1.00[AFR][1000 genomes]
rs72670409	1.00[AFR][1000 genomes]
rs72670410	1.00[AFR][1000 genomes]
rs72670412	1.00[AFR][1000 genomes]
rs72670414	1.00[AFR][1000 genomes]
rs72670415	1.00[AFR][1000 genomes]
rs72670416	1.00[AFR][1000 genomes]
rs72670420	1.00[AFR][1000 genomes]
rs72670421	1.00[AFR][1000 genomes]
rs72670425	1.00[AFR][1000 genomes]
rs72670427	1.00[AFR][1000 genomes]
rs72670428	1.00[AFR][1000 genomes]
rs72670431	1.00[AFR][1000 genomes]
rs72686517	1.00[AFR][1000 genomes]
rs72686518	1.00[AFR][1000 genomes]
rs72686524	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72686525	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72686526	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72686529	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72686538	1.00[AFR][1000 genomes]
rs72686541	1.00[AFR][1000 genomes]
rs72686542	1.00[AFR][1000 genomes]
rs72686543	1.00[AFR][1000 genomes]
rs72686544	1.00[AFR][1000 genomes]
rs72686546	1.00[AFR][1000 genomes]
rs72686547	1.00[AFR][1000 genomes]
rs72686550	1.00[AFR][1000 genomes]
rs72686552	1.00[AFR][1000 genomes]
rs7662162	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv879851	chr4:120942372-120984077	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:120966000-120975600	Weak transcription	Dnd41	blood
3	chr4:120966400-120976200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:120970000-120979600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:120971000-120976400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:120971000-120977000	Weak transcription	A549	lung
7	chr4:120971000-120983200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:120971000-120987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:120971200-120975200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:120971200-120975600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:120971200-120975600	Weak transcription	Aorta	Aorta
12	chr4:120971200-120975600	Weak transcription	Fetal Thymus	thymus
13	chr4:120971200-120975600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:120971200-120976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:120971200-120976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:120971200-120977200	Weak transcription	Psoas Muscle	Psoas
17	chr4:120971200-120978000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:120971200-120978200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:120971200-120978200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:120971200-120978200	Weak transcription	K562	blood
21	chr4:120971200-120978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:120971200-120978400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:120971200-120978600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:120971200-120979400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:120971200-120979600	Weak transcription	HUVEC	blood vessel
26	chr4:120971200-120980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:120971200-120980800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:120971200-120980800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:120971200-120981400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:120971200-120983200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:120971200-120985200	Weak transcription	Fetal Kidney	kidney
32	chr4:120971200-120985600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:120971200-120986400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:120971200-120986400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:120971200-120986800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:120971200-120987200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:120971200-120987200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr4:120971200-120987400	Weak transcription	Left Ventricle	heart
39	chr4:120972600-120977400	Enhancers	Fetal Lung	lung
40	chr4:120973000-120974800	Enhancers	NHLF	lung
41	chr4:120973000-120976200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:120973200-120978200	Weak transcription	Thymus	Thymus
43	chr4:120973400-120975000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:120973400-120975800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:120973400-120979400	Weak transcription	HMEC	breast
46	chr4:120973600-120979600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:120973800-120974800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:120973800-120974800	Enhancers	NH-A	brain
49	chr4:120973800-120975000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:120973800-120975000	Enhancers	NHDF-Ad	bronchial

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