Variant report

Variant	rs6991360
Chromosome Location	chr8:58660214-58660215
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:238427169..238427733-chr8:58660198..58661045,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55682750	0.83[EUR][1000 genomes]
rs56147716	0.83[EUR][1000 genomes]
rs6986591	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72657189	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72657202	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72659115	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659116	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659120	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659121	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659122	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659131	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659132	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659133	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659134	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659138	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816521	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv890937	chr8:58600994-58695807	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58651800-58660400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:58654200-58660400	Weak transcription	Fetal Kidney	kidney
3	chr8:58655000-58660400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:58658200-58660400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:58658400-58660400	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:58658400-58660400	Weak transcription	Ovary	ovary
7	chr8:58658400-58660400	Weak transcription	GM12878-XiMat	blood
8	chr8:58658400-58660600	Weak transcription	Colonic Mucosa	Colon
9	chr8:58658600-58660400	Weak transcription	Fetal Lung	lung
10	chr8:58658600-58660400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:58658600-58660400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:58658600-58660400	Weak transcription	Right Atrium	heart
13	chr8:58658600-58660600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:58658600-58660800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:58658800-58660400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:58658800-58660400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr8:58658800-58660400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:58658800-58660400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:58658800-58660400	Weak transcription	NHLF	lung
20	chr8:58658800-58660600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:58658800-58660600	Weak transcription	Brain Anterior Caudate	brain
22	chr8:58658800-58660600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:58658800-58660600	Weak transcription	Osteobl	bone
24	chr8:58658800-58660800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:58658800-58660800	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:58658800-58660800	Weak transcription	Thymus	Thymus
27	chr8:58658800-58661000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:58658800-58661400	Weak transcription	Spleen	Spleen
29	chr8:58658800-58663000	Weak transcription	HSMMtube	muscle
30	chr8:58658800-58663200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:58659000-58660400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:58659000-58660400	Weak transcription	Adipose Nuclei	Adipose
33	chr8:58659000-58660600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:58659000-58660600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:58659000-58660600	Weak transcription	HSMM	muscle
36	chr8:58659000-58660800	Weak transcription	Primary T cells from cord blood	blood
37	chr8:58659000-58663000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:58659200-58660400	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:58660200-58660400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:58660200-58660400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:58660200-58660400	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:58660200-58660400	Enhancers	NHDF-Ad	bronchial
43	chr8:58660200-58660800	Enhancers	Fetal Stomach	stomach
44	chr8:58660200-58661800	Enhancers	Cortex derived primary cultured neurospheres	brain

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