Variant report

Variant	rs6869396
Chromosome Location	chr5:60576631-60576632
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60576541..60577260-chr5:60600117..60600681,2	MCF-7	breast:
2	chr5:60568345..60570305-chr5:60576207..60578303,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10041973	0.84[AFR][1000 genomes]
rs10044683	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10070347	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10471269	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10471511	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10939896	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12187377	1.00[CEU][hapmap];0.87[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6870703	0.88[ASW][hapmap];0.82[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73103624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9291719	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9291720	1.00[AMR][1000 genomes];0.96[EUR][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv823088	chr5:60572580-60577406	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv441955	chr5:60573147-60576860	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60567800-60577200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:60571800-60583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:60572000-60577000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:60572000-60582400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:60573400-60586600	Weak transcription	Esophagus	oesophagus
6	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
7	chr5:60574000-60585400	Weak transcription	Spleen	Spleen
8	chr5:60574600-60576800	Enhancers	Small Intestine	intestine
9	chr5:60574600-60577600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:60575200-60577400	Enhancers	Fetal Heart	heart
11	chr5:60575400-60576800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:60575400-60577400	Enhancers	Fetal Intestine Small	intestine
13	chr5:60575400-60577400	Enhancers	HMEC	breast
14	chr5:60575400-60577800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:60575400-60577800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:60575400-60577800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:60575600-60576800	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:60575600-60577000	Enhancers	NHLF	lung
19	chr5:60575600-60577200	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:60575600-60577200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:60575600-60577200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:60575600-60577200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr5:60575600-60577200	Enhancers	HSMM	muscle
24	chr5:60575600-60577200	Enhancers	Osteobl	bone
25	chr5:60575600-60577400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:60575600-60577400	Enhancers	Brain Germinal Matrix	brain
27	chr5:60575600-60577400	Enhancers	Fetal Intestine Large	intestine
28	chr5:60575600-60577800	Enhancers	HUVEC	blood vessel
29	chr5:60575800-60576800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr5:60575800-60576800	Enhancers	HSMMtube	muscle
31	chr5:60575800-60577000	Enhancers	Rectal Smooth Muscle	rectum
32	chr5:60575800-60577200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:60575800-60577200	Enhancers	Primary hematopoietic stem cells	blood
34	chr5:60575800-60577200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:60575800-60577400	Enhancers	Primary B cells from cord blood	blood
36	chr5:60575800-60577400	Enhancers	A549	lung
37	chr5:60575800-60577400	Enhancers	NHDF-Ad	bronchial
38	chr5:60575800-60577600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:60575800-60577800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:60576000-60576800	Enhancers	Fetal Lung	lung
41	chr5:60576000-60576800	Enhancers	Psoas Muscle	Psoas
42	chr5:60576000-60577000	Enhancers	Fetal Brain Male	brain
43	chr5:60576000-60577000	Enhancers	Stomach Mucosa	stomach
44	chr5:60576000-60577000	Enhancers	GM12878-XiMat	blood
45	chr5:60576000-60577200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:60576000-60577200	Enhancers	Colon Smooth Muscle	Colon
47	chr5:60576000-60577200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:60576000-60577400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:60576000-60577400	Enhancers	Fetal Kidney	kidney
50	chr5:60576000-60577600	Enhancers	Cortex derived primary cultured neurospheres	brain

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