Variant report

Variant	rs12545602
Chromosome Location	chr8:100846840-100846841
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100844190..100847017-chr8:101086686..101088410,2	MCF-7	breast:
2	chr8:100845168..100847412-chr8:100874021..100876420,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10955222	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1130569	1.00[JPT][hapmap]
rs1135382	0.84[JPT][hapmap]
rs11987173	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12541837	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12544943	0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs12548827	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548840	1.00[JPT][hapmap]
rs13252579	0.81[AMR][1000 genomes]
rs13253073	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs13259066	0.81[AMR][1000 genomes]
rs13264726	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13273257	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13277184	1.00[JPT][hapmap]
rs13280341	1.00[JPT][hapmap]
rs2305290	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34513504	0.82[ASN][1000 genomes]
rs35615286	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4076509	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4409375	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4480092	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4626565	1.00[JPT][hapmap]
rs6468694	1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6984511	0.87[ASN][1000 genomes]
rs6986006	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7015733	1.00[JPT][hapmap]
rs7157	1.00[JPT][hapmap]
rs7828241	1.00[JPT][hapmap]
rs7840626	1.00[JPT][hapmap]
rs7844439	1.00[JPT][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	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100778400-100857800	Weak transcription	Spleen	Spleen
2	chr8:100783200-100858200	Weak transcription	Gastric	stomach
3	chr8:100783400-100857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:100791400-100861600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:100807200-100857200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:100807400-100847800	Weak transcription	Liver	Liver
7	chr8:100809400-100847600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:100811200-100857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:100814200-100872400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:100816800-100858000	Weak transcription	HSMM	muscle
11	chr8:100816800-100858200	Weak transcription	HSMMtube	muscle
12	chr8:100816800-100865800	Weak transcription	Left Ventricle	heart
13	chr8:100816800-100866200	Weak transcription	Pancreas	Pancrea
14	chr8:100817600-100872400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:100818400-100865800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:100819000-100865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:100820200-100874000	Weak transcription	Colonic Mucosa	Colon
18	chr8:100821000-100847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:100822200-100865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:100822600-100857600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:100823800-100849000	Weak transcription	Thymus	Thymus
22	chr8:100826000-100857400	Weak transcription	Dnd41	blood
23	chr8:100826000-100857800	Weak transcription	Osteobl	bone
24	chr8:100826200-100857600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:100826200-100858200	Weak transcription	NHDF-Ad	bronchial
26	chr8:100826400-100865200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:100827000-100850800	Weak transcription	Fetal Intestine Large	intestine
28	chr8:100827000-100858400	Weak transcription	Placenta	Placenta
29	chr8:100830400-100855600	Weak transcription	Adipose Nuclei	Adipose
30	chr8:100830400-100858400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:100830400-100872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:100830800-100847600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:100830800-100855200	Weak transcription	Ovary	ovary
34	chr8:100831800-100849000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:100832000-100857400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:100832400-100872800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:100832800-100849000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:100833800-100865400	Weak transcription	NHLF	lung
39	chr8:100834200-100847800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:100834800-100852600	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:100835400-100869200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:100835600-100872200	Weak transcription	Brain Substantia Nigra	brain
43	chr8:100836600-100853800	Weak transcription	Lung	lung
44	chr8:100836600-100857000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:100836600-100857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:100836800-100851600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:100836800-100857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:100841800-100851800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:100841800-100857400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:100842400-100851000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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