Variant report

Variant	rs6994169
Chromosome Location	chr8:64087461-64087462
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	chr8:64085254..64087661-chr8:64131958..64134792,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088859	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10092975	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10098087	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10098776	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10104382	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10110931	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10112454	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16930250	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1897987	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28708489	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4074214	0.84[ASN][1000 genomes]
rs56175034	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58009465	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6991542	0.87[ASN][1000 genomes]
rs7011915	0.87[ASN][1000 genomes]
rs73684829	0.84[ASN][1000 genomes]
rs73686712	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73686715	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs892850	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9657033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9792339	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890965	chr8:64006201-64104092	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv890966	chr8:64073650-64099240	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64082000-64092200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:64082000-64098800	Weak transcription	Esophagus	oesophagus
3	chr8:64082000-64099000	Weak transcription	Gastric	stomach
4	chr8:64082200-64088800	Weak transcription	Left Ventricle	heart
5	chr8:64082200-64092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:64082200-64098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:64082200-64098600	Weak transcription	Lung	lung
8	chr8:64082400-64098800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:64082600-64089000	Weak transcription	Fetal Stomach	stomach
10	chr8:64082600-64090200	Weak transcription	Thymus	Thymus
11	chr8:64082600-64098600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:64082600-64098600	Weak transcription	Colonic Mucosa	Colon
13	chr8:64082800-64087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:64082800-64088200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:64082800-64098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:64083000-64098600	Weak transcription	Fetal Kidney	kidney
17	chr8:64083400-64089800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:64083400-64098600	Weak transcription	HSMMtube	muscle
19	chr8:64083400-64098800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:64083600-64087600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:64083600-64087800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:64083600-64088200	Genic enhancers	Liver	Liver
23	chr8:64083600-64092000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:64083600-64098600	Weak transcription	Fetal Brain Male	brain
25	chr8:64083600-64098800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:64083600-64098800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:64083800-64088600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:64084000-64091000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:64084000-64092000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:64084000-64098800	Weak transcription	Brain Germinal Matrix	brain
31	chr8:64084200-64087800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:64084200-64090400	Strong transcription	K562	blood
33	chr8:64084200-64091200	Strong transcription	Fetal Thymus	thymus
34	chr8:64084200-64091200	Strong transcription	NH-A	brain
35	chr8:64084200-64091400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr8:64084200-64091800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:64084200-64091800	Strong transcription	HSMM	muscle
38	chr8:64084200-64096200	Weak transcription	Brain Substantia Nigra	brain
39	chr8:64084200-64098600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:64084200-64098800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:64084200-64102200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:64084400-64087600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:64084400-64088200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:64084400-64091200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:64084400-64091800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:64084400-64091800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:64084400-64091800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:64084400-64094200	Weak transcription	Small Intestine	intestine
49	chr8:64084400-64097200	Weak transcription	NHLF	lung
50	chr8:64084400-64098600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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