Variant report

Variant	rs3133978
Chromosome Location	chr8:94945655-94945656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:94927376..94932335-chr8:94938038..94946692,12	MCF-7	breast:
2	chr8:94938610..94942312-chr8:94945621..94947708,4	MCF-7	breast:
3	chr8:94927501..94930110-chr8:94944661..94946541,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264448	Chromatin interaction
ENSG00000164951	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs28758779	0.87[EUR][1000 genomes]
rs3115898	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115904	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115907	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115908	1.00[EUR][1000 genomes]
rs3115909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115910	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115914	0.82[ASN][1000 genomes]
rs3133979	1.00[EUR][1000 genomes]
rs3133980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3133983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133984	1.00[EUR][1000 genomes]
rs3133985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34468383	0.87[EUR][1000 genomes]
rs57919376	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328810	0.96[EUR][1000 genomes]
rs58550934	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58894594	0.83[EUR][1000 genomes]
rs59390113	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525235	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62525237	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525238	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525241	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94935400-94947200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:94935600-94947800	Weak transcription	Primary T cells from cord blood	blood
3	chr8:94935800-94947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:94935800-94947200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:94935800-94948000	Weak transcription	Fetal Thymus	thymus
6	chr8:94935800-94948000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:94935800-94948200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:94935800-94948200	Weak transcription	Fetal Kidney	kidney
9	chr8:94935800-94950800	Weak transcription	Placenta	Placenta
10	chr8:94936000-94947600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:94936000-94947800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:94936200-94947000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:94936200-94947000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:94936200-94947200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:94936200-94947200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:94936200-94947400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:94936200-94947400	Weak transcription	HSMMtube	muscle
18	chr8:94936200-94947600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:94936200-94948200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:94936200-94950800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:94936400-94947400	Weak transcription	Dnd41	blood
22	chr8:94936400-94948000	Weak transcription	Liver	Liver
23	chr8:94936400-94948400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:94936400-94950800	Weak transcription	Brain Angular Gyrus	brain
25	chr8:94936400-94950800	Weak transcription	Fetal Lung	lung
26	chr8:94936600-94948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:94936600-94950800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:94936800-94947200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:94936800-94950800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:94937400-94947000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:94937400-94947200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:94937400-94947400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:94937400-94947600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:94937800-94947200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:94938000-94947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:94940000-94947000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:94940400-94947600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:94940800-94949000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:94941800-94947200	Weak transcription	Fetal Intestine Small	intestine
40	chr8:94941800-94948000	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:94943600-94947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:94943800-94946000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:94943800-94947800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:94944000-94945800	Enhancers	Stomach Mucosa	stomach
45	chr8:94944200-94946800	Enhancers	Left Ventricle	heart
46	chr8:94944200-94947400	Enhancers	HMEC	breast
47	chr8:94944400-94945800	Enhancers	Fetal Heart	heart
48	chr8:94944400-94945800	Enhancers	A549	lung
49	chr8:94944400-94945800	Enhancers	GM12878-XiMat	blood
50	chr8:94944400-94946200	Enhancers	Esophagus	oesophagus

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