Variant report

Variant	rs2554372
Chromosome Location	chr8:131333913-131333914
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	chr8:131332115..131335468-chr8:131338120..131341741,4	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10089819	0.87[CEU][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap]
rs10091450	0.84[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs10100892	0.82[CHB][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap]
rs10103280	0.81[CHB][hapmap]
rs10956512	0.82[CHB][hapmap]
rs10956514	0.82[CHD][hapmap]
rs1158569	0.85[CHD][hapmap];0.87[MEX][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1340022	0.80[MEX][hapmap];0.88[YRI][hapmap]
rs1426101	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs16904259	0.82[CHB][hapmap]
rs2554369	0.82[CHB][hapmap];0.82[TSI][hapmap]
rs2670888	0.82[CHB][hapmap]
rs2670890	0.82[CHB][hapmap]
rs2791338	0.82[CHB][hapmap]
rs2791342	0.82[CHB][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs2791343	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2791350	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2943086	0.82[CHB][hapmap];0.88[TSI][hapmap]
rs6470804	0.83[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs6470816	0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs7004884	0.82[CHB][hapmap];0.85[TSI][hapmap]
rs7008182	0.81[ASN][1000 genomes]
rs7387699	0.85[AFR][1000 genomes]
rs7839155	0.82[CHD][hapmap]
rs7846376	0.92[CEU][hapmap];0.82[CHB][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap]
rs9297805	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap]

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
2	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:131315600-131353400	Weak transcription	Dnd41	blood
4	chr8:131322000-131335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
6	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
7	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:131325200-131335800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:131325200-131336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:131326400-131336200	Weak transcription	Hela-S3	cervix
11	chr8:131326800-131336400	Weak transcription	Fetal Lung	lung
12	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:131327000-131334200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:131327000-131334800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:131327200-131337800	Weak transcription	Fetal Kidney	kidney
17	chr8:131328400-131334800	Weak transcription	Liver	Liver
18	chr8:131329000-131337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:131329200-131335200	Weak transcription	Small Intestine	intestine
20	chr8:131330200-131334800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:131330200-131334800	Weak transcription	Stomach Mucosa	stomach
22	chr8:131330200-131335000	Weak transcription	Left Ventricle	heart
23	chr8:131330200-131335200	Weak transcription	Right Ventricle	heart
24	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
25	chr8:131330400-131336200	Weak transcription	Fetal Heart	heart
26	chr8:131330600-131334800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:131330600-131335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:131330600-131336400	Weak transcription	HMEC	breast
29	chr8:131330800-131334600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:131330800-131335000	Weak transcription	Right Atrium	heart
31	chr8:131330800-131338400	Weak transcription	Placenta	Placenta
32	chr8:131331000-131334200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:131331000-131334800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:131331000-131335000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:131331000-131335200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:131331000-131335600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:131331000-131342400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:131331200-131335800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:131331200-131340400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:131331400-131334200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:131331400-131334600	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:131331600-131335000	Weak transcription	K562	blood
43	chr8:131331800-131334200	Weak transcription	Brain Angular Gyrus	brain
44	chr8:131331800-131334800	Weak transcription	Brain Substantia Nigra	brain
45	chr8:131331800-131335000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:131331800-131335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:131331800-131339600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:131331800-131340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:131332000-131334200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:131332000-131334200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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