Variant report

Variant	rs12544943
Chromosome Location	chr8:100903890-100903891
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	chr8:100884579..100893900-chr8:100903048..100907419,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164919	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10955222	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10955223	0.98[ASN][1000 genomes]
rs1130474	0.84[ASN][1000 genomes]
rs1130569	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1135382	0.85[TSI][hapmap]
rs12541837	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12545602	0.81[AMR][1000 genomes]
rs12547260	0.82[ASN][1000 genomes]
rs12548542	0.84[ASN][1000 genomes]
rs12548827	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12548840	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs13252579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13253073	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13259051	0.84[ASN][1000 genomes]
rs13259066	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13264726	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13273257	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13277184	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs13280341	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16897831	0.90[CHB][hapmap]
rs16897836	0.90[CHB][hapmap]
rs2045676	0.90[CHB][hapmap]
rs2305290	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34029308	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35615286	0.81[AMR][1000 genomes]
rs35745659	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35935983	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4076509	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4409375	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4480092	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4510829	0.85[TSI][hapmap]
rs4626565	0.82[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs62534633	0.82[ASN][1000 genomes]
rs6468694	1.00[ASW][hapmap];0.91[CEU][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6986006	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7015733	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs7157	0.82[MEX][hapmap];0.85[TSI][hapmap]
rs7812991	0.82[ASN][1000 genomes]
rs7828241	0.82[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs7840626	0.82[JPT][hapmap]
rs7844439	0.82[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs988030	0.81[CHB][hapmap]

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	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
2	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100884400-100904800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:100885600-100904800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:100886800-100904000	Weak transcription	Right Ventricle	heart
4	chr8:100886800-100904800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:100889400-100904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:100890800-100904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:100891400-100904200	Weak transcription	Colonic Mucosa	Colon
8	chr8:100894600-100904000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:100896400-100904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:100896400-100904200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:100897000-100904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:100898400-100904000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:100898600-100904200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:100899000-100904000	Weak transcription	HUVEC	blood vessel
15	chr8:100899600-100904200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:100899600-100904200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:100899800-100904000	Weak transcription	Fetal Kidney	kidney
18	chr8:100899800-100904000	Weak transcription	HSMM	muscle
19	chr8:100899800-100904600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:100900000-100904200	Weak transcription	NH-A	brain
21	chr8:100900800-100904000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:100901000-100904000	Genic enhancers	Left Ventricle	heart
23	chr8:100901200-100904400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:100901400-100904000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:100901400-100904000	Weak transcription	Primary B cells from cord blood	blood
26	chr8:100901400-100904200	Weak transcription	Psoas Muscle	Psoas
27	chr8:100901600-100904200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:100901800-100904200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:100902000-100904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:100902400-100904000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:100902400-100904000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:100902400-100904400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr8:100902600-100904000	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr8:100902600-100904000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr8:100902600-100904400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:100902600-100904400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr8:100902600-100904600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:100902600-100904600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:100902600-100904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:100902800-100904000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:100902800-100904400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:100903000-100904000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:100903000-100904200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:100903200-100904000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:100903200-100904000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:100903200-100904000	Genic enhancers	Brain Angular Gyrus	brain
47	chr8:100903200-100904000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:100903200-100904000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:100903200-100904000	Genic enhancers	Fetal Thymus	thymus
50	chr8:100903200-100904200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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