Variant report

Variant	rs4695386
Chromosome Location	chr4:48538398-48538399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48533601..48535229-chr4:48537411..48540962,3	K562	blood:
2	chr4:48537925..48542072-chr4:48545238..48547735,4	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10029425	1.00[AMR][1000 genomes]
rs10034207	1.00[AMR][1000 genomes]
rs10049760	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10755182	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10805171	1.00[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10938539	1.00[AMR][1000 genomes]
rs10938541	1.00[AMR][1000 genomes]
rs12500224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12500244	1.00[AMR][1000 genomes]
rs12507546	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13125379	1.00[AMR][1000 genomes]
rs1474072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1517673	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1517676	1.00[AMR][1000 genomes]
rs1517677	1.00[AMR][1000 genomes]
rs1533511	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];0.89[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	0.89[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694903	1.00[AMR][1000 genomes]
rs4695385	1.00[AMR][1000 genomes]
rs4695390	1.00[YRI][hapmap];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6447643	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs6447654	1.00[AMR][1000 genomes]
rs6447656	1.00[AMR][1000 genomes]
rs6447657	1.00[AMR][1000 genomes]
rs6821456	0.93[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844088	1.00[AMR][1000 genomes]
rs6846797	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848222	1.00[AMR][1000 genomes]
rs6848417	1.00[AMR][1000 genomes]
rs6849798	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6853876	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs707720	1.00[AMR][1000 genomes]
rs7434721	0.93[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7692480	0.86[AFR][1000 genomes];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];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776587	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776589	1.00[AMR][1000 genomes]
rs776595	0.82[YRI][hapmap];0.89[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[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:48498200-48539600	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:48499600-48581400	Strong transcription	Dnd41	blood
9	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:48501000-48538800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:48505400-48538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:48505400-48540000	Strong transcription	HSMM	muscle
18	chr4:48506000-48538800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
20	chr4:48507600-48568600	Strong transcription	Primary T cells from cord blood	blood
21	chr4:48507800-48539400	Strong transcription	Primary B cells from cord blood	blood
22	chr4:48508800-48538800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr4:48509400-48540000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:48510600-48538800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:48512200-48542400	Weak transcription	Stomach Mucosa	stomach
26	chr4:48512200-48545000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
28	chr4:48518400-48538400	Strong transcription	Adipose Nuclei	Adipose
29	chr4:48519400-48539000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:48519400-48539000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr4:48519400-48566200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:48519800-48538800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:48519800-48539600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:48520000-48538600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:48520200-48538600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:48520200-48539000	Strong transcription	Fetal Intestine Large	intestine
37	chr4:48520600-48539200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:48521200-48539800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:48522600-48563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:48522800-48538800	Strong transcription	HUVEC	blood vessel
41	chr4:48522800-48539600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:48524600-48542400	Weak transcription	Psoas Muscle	Psoas
43	chr4:48525000-48544800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:48525000-48595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:48525200-48540800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:48525200-48542400	Weak transcription	Right Ventricle	heart
47	chr4:48525200-48543600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:48525200-48543600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:48525200-48544800	Weak transcription	Spleen	Spleen
50	chr4:48525200-48552800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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