Variant report

Variant	rs4695390
Chromosome Location	chr4:48582836-48582837
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48581741..48583437-chr4:48781686..48783463,2	MCF-7	breast:
2	chr4:48581199..48583322-chr4:48590838..48593348,2	MCF-7	breast:
3	chr4:48580560..48583320-chr4:48586437..48588078,2	K562	blood:

Variant related genes	Relation type
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10029425	1.00[AMR][1000 genomes]
rs10034207	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10049760	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10755182	1.00[AMR][1000 genomes]
rs10805171	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10805172	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs10938535	1.00[AMR][1000 genomes]
rs10938538	1.00[AMR][1000 genomes]
rs10938539	1.00[AMR][1000 genomes]
rs10938541	1.00[AMR][1000 genomes]
rs12500224	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12500244	1.00[AMR][1000 genomes]
rs12507475	1.00[AMR][1000 genomes]
rs12507546	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13125379	1.00[AMR][1000 genomes]
rs1474072	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1517673	1.00[AMR][1000 genomes]
rs1517676	1.00[AMR][1000 genomes]
rs1517677	1.00[AMR][1000 genomes]
rs1533511	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1554257	1.00[AMR][1000 genomes]
rs1616561	1.00[AMR][1000 genomes]
rs1702796	1.00[AMR][1000 genomes]
rs1702799	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1712762	1.00[YRI][hapmap]
rs1712771	1.00[AMR][1000 genomes]
rs1949422	1.00[AMR][1000 genomes]
rs2138866	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2138867	1.00[AMR][1000 genomes]
rs28371079	1.00[AMR][1000 genomes]
rs2883410	1.00[AMR][1000 genomes]
rs2940319	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4235155	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs4235157	1.00[AMR][1000 genomes]
rs4235159	0.82[AFR][1000 genomes]
rs4330326	1.00[AMR][1000 genomes]
rs4558842	1.00[AMR][1000 genomes]
rs4694896	1.00[AMR][1000 genomes]
rs4694898	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694903	1.00[AMR][1000 genomes]
rs4695385	1.00[AMR][1000 genomes]
rs4695386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695402	1.00[AMR][1000 genomes]
rs4695403	1.00[AMR][1000 genomes]
rs4695405	1.00[AMR][1000 genomes]
rs4998005	1.00[AMR][1000 genomes]
rs6447642	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6447643	1.00[YRI][hapmap]
rs6447654	1.00[AMR][1000 genomes]
rs6447656	1.00[AMR][1000 genomes]
rs6447657	1.00[AMR][1000 genomes]
rs6821456	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6823351	1.00[AMR][1000 genomes]
rs6827481	1.00[AMR][1000 genomes]
rs6828500	1.00[AMR][1000 genomes]
rs6835757	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844088	1.00[AMR][1000 genomes]
rs6846797	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848222	1.00[AMR][1000 genomes]
rs6848417	1.00[AMR][1000 genomes]
rs6849798	1.00[AMR][1000 genomes]
rs6853876	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs707720	1.00[AMR][1000 genomes]
rs7434721	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664507	1.00[AMR][1000 genomes]
rs7689293	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7689662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7692480	1.00[AMR][1000 genomes]
rs7698064	1.00[AMR][1000 genomes]
rs776581	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs776583	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776587	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776589	1.00[AMR][1000 genomes]
rs776595	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776603	1.00[AMR][1000 genomes]
rs938791	1.00[AMR][1000 genomes]
rs9994214	1.00[AMR][1000 genomes]
rs9997932	1.00[AMR][1000 genomes]
rs9998178	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv966557	chr4:48577320-48618907	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	16 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	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
5	chr4:48525000-48595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:48528200-48596000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:48541000-48587800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:48541200-48594000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr4:48542800-48604400	Weak transcription	A549	lung
10	chr4:48545200-48618200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:48546400-48596400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:48547400-48593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:48557800-48622400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:48559800-48604400	Weak transcription	HepG2	liver
15	chr4:48561400-48604400	Weak transcription	Stomach Mucosa	stomach
16	chr4:48562600-48596600	Weak transcription	Fetal Brain Male	brain
17	chr4:48562800-48590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:48562800-48623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:48563000-48637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:48563200-48587000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:48563400-48593600	Weak transcription	Spleen	Spleen
22	chr4:48566600-48587600	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:48573200-48586200	Weak transcription	Psoas Muscle	Psoas
24	chr4:48573200-48590000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:48573200-48604600	Weak transcription	NHLF	lung
26	chr4:48573200-48605600	Weak transcription	Pancreas	Pancrea
27	chr4:48573200-48605600	Weak transcription	Small Intestine	intestine
28	chr4:48573800-48590000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:48574000-48584400	Weak transcription	Fetal Heart	heart
30	chr4:48575000-48586400	Weak transcription	Left Ventricle	heart
31	chr4:48575000-48590000	Weak transcription	Right Ventricle	heart
32	chr4:48575000-48590400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:48575200-48584400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:48575200-48586200	Weak transcription	NHDF-Ad	bronchial
35	chr4:48575200-48643000	Weak transcription	HSMMtube	muscle
36	chr4:48575400-48583400	Weak transcription	Fetal Brain Female	brain
37	chr4:48576400-48589000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:48577400-48583400	Weak transcription	NH-A	brain
39	chr4:48577600-48583000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:48577800-48586200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:48578000-48583800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:48578000-48596400	Weak transcription	Osteobl	bone
43	chr4:48578200-48583000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:48578200-48583200	Weak transcription	HUVEC	blood vessel
45	chr4:48578200-48583400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr4:48578200-48583800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:48578200-48584000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:48578200-48586400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:48578200-48605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:48578400-48583400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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