Variant report

Variant	rs6993388
Chromosome Location	chr8:123807036-123807037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:123805865..123808753-chr8:123870685..123872889,2	MCF-7	breast:
2	chr8:123792285..123793905-chr8:123807000..123807821,5	MCF-7	breast:
3	chr8:123806027..123808162-chr8:123808470..123810744,2	K562	blood:
4	chr8:123806893..123807495-chr8:123870264..123871008,2	MCF-7	breast:
5	chr8:123805905..123808822-chr8:123813793..123817277,3	MCF-7	breast:
6	chr8:123745565..123746403-chr8:123807014..123807884,2	MCF-7	breast:
7	chr8:123806031..123809295-chr8:123856527..123858763,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178764	Chromatin interaction
ENSG00000272043	Chromatin interaction
ENSG00000272384	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10505426	1.00[EUR][1000 genomes]
rs11990273	1.00[EUR][1000 genomes]
rs16897554	1.00[EUR][1000 genomes]
rs16897576	1.00[EUR][1000 genomes]
rs1992669	1.00[EUR][1000 genomes]
rs60296517	1.00[EUR][1000 genomes]
rs6988421	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7008874	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73331728	1.00[EUR][1000 genomes]
rs73331733	1.00[EUR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:123795400-123807400	Weak transcription	Stomach Mucosa	stomach
2	chr8:123795400-123809600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:123795600-123807200	Weak transcription	Right Atrium	heart
4	chr8:123795600-123810600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:123795800-123810200	Weak transcription	NHEK	skin
6	chr8:123795800-123810400	Weak transcription	HSMM	muscle
7	chr8:123795800-123810600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:123795800-123811400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:123797200-123807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:123797400-123807400	Weak transcription	Aorta	Aorta
11	chr8:123797400-123807400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:123797600-123807600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:123797600-123809600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:123797800-123808600	Weak transcription	Colonic Mucosa	Colon
15	chr8:123798200-123810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:123799000-123807400	Weak transcription	Adipose Nuclei	Adipose
17	chr8:123799000-123807400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:123799200-123807400	Weak transcription	Gastric	stomach
19	chr8:123799200-123809000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:123800000-123811200	Weak transcription	HSMMtube	muscle
21	chr8:123800400-123809400	Weak transcription	Fetal Kidney	kidney
22	chr8:123800400-123846200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:123801200-123807200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:123801200-123842200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:123801400-123807200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:123801400-123807200	Weak transcription	HMEC	breast
27	chr8:123801600-123807200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:123801600-123809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:123801600-123810200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:123801600-123811200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:123801600-123822200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:123801600-123829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:123801800-123807400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:123801800-123807400	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:123801800-123809200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:123801800-123810600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:123801800-123810800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:123801800-123829000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:123801800-123832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:123802000-123807200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:123802000-123807200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:123802000-123809800	Weak transcription	Fetal Brain Female	brain
43	chr8:123802000-123817800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:123802000-123826600	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:123802200-123808400	Weak transcription	Fetal Brain Male	brain
46	chr8:123802200-123808800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr8:123802400-123807200	Weak transcription	Placenta	Placenta
48	chr8:123802400-123807800	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr8:123802400-123808000	Enhancers	Brain Angular Gyrus	brain
50	chr8:123802400-123809800	Enhancers	Brain Germinal Matrix	brain

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