Variant report

Variant	rs1966478
Chromosome Location	chr5:118627319-118627320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118610566..118612604-chr5:118626504..118628102,2	MCF-7	breast:
2	chr5:118625535..118627698-chr5:118638238..118640476,2	MCF-7	breast:
3	chr5:118622239..118624892-chr5:118626281..118628350,2	MCF-7	breast:
4	chr5:118626131..118628093-chr5:118660275..118663630,3	K562	blood:
5	chr5:118626131..118628093-chr5:118660275..118662389,2	K562	blood:
6	chr5:118623266..118625582-chr5:118625738..118628697,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10463467	0.84[AFR][1000 genomes]
rs13174838	0.91[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[MKK][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1422012	0.94[AFR][1000 genomes]
rs1504979	0.80[AFR][1000 genomes]
rs17145129	0.89[YRI][hapmap]
rs17145142	0.81[LWK][hapmap];0.89[YRI][hapmap]
rs1966479	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4895188	0.85[LWK][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs6595183	0.90[CHB][hapmap]
rs6865343	0.87[AFR][1000 genomes]
rs6871637	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6876100	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6877317	0.81[AFR][1000 genomes]
rs6877582	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6878373	0.80[AFR][1000 genomes]
rs6884614	0.87[AFR][1000 genomes]
rs6884625	0.89[AFR][1000 genomes]
rs6890983	0.82[GIH][hapmap]
rs888769	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs888771	0.80[AFR][1000 genomes]
rs905831	0.83[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[MKK][hapmap];0.81[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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118618400-118627800	Weak transcription	Right Ventricle	heart
2	chr5:118619400-118628600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr5:118619800-118629600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:118620000-118629400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:118621800-118627400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr5:118622200-118628200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:118622400-118628000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:118622400-118628000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:118622600-118627800	Enhancers	Fetal Lung	lung
10	chr5:118623800-118627800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr5:118623800-118628000	Enhancers	Primary hematopoietic stem cells	blood
12	chr5:118623800-118628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:118624000-118627800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:118624000-118628200	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:118624400-118627800	Weak transcription	Small Intestine	intestine
16	chr5:118624600-118627400	Enhancers	A549	lung
17	chr5:118624800-118627800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:118624800-118628000	Enhancers	Placenta	Placenta
19	chr5:118625000-118628000	Enhancers	Fetal Heart	heart
20	chr5:118625000-118629600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:118625400-118627600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:118625400-118628000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:118625400-118629000	Weak transcription	HMEC	breast
24	chr5:118625400-118637200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:118625600-118628000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:118625800-118627800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:118625800-118628000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:118626000-118627600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr5:118626000-118627600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:118626000-118627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:118626000-118627800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:118626000-118627800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:118626000-118627800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:118626000-118628000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr5:118626200-118627400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:118626200-118627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:118626200-118627600	Weak transcription	Fetal Stomach	stomach
38	chr5:118626200-118627600	Genic enhancers	Dnd41	blood
39	chr5:118626200-118627600	Weak transcription	HSMMtube	muscle
40	chr5:118626200-118627800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:118626200-118627800	Weak transcription	NHDF-Ad	bronchial
42	chr5:118626200-118628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:118626200-118628000	Genic enhancers	Fetal Thymus	thymus
44	chr5:118626200-118629600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr5:118626400-118627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:118626400-118627600	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:118626400-118627600	Enhancers	Thymus	Thymus
48	chr5:118626400-118627800	Weak transcription	Adipose Nuclei	Adipose
49	chr5:118626400-118627800	Weak transcription	Esophagus	oesophagus
50	chr5:118626400-118627800	Enhancers	Fetal Intestine Large	intestine

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