Variant report

Variant	rs10971544
Chromosome Location	chr9:33508940-33508941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:33508653..33511293-chr9:33522679..33524589,3	MCF-7	breast:
2	chr9:33506278..33509110-chr9:33511393..33513037,2	MCF-7	breast:
3	chr9:33506883..33509573-chr9:33522858..33524863,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230453	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10758210	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10813990	0.96[CEU][hapmap];0.81[JPT][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10813991	0.82[JPT][hapmap]
rs10971538	0.85[EUR][1000 genomes]
rs10971543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11787590	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12002293	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12005354	0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.82[MKK][hapmap];0.83[ASN][1000 genomes]
rs12005759	0.82[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];0.83[ASN][1000 genomes]
rs2777740	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2777741	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2777742	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2777744	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2777753	0.81[CEU][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap]
rs2785205	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2785206	0.96[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2785210	0.90[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap]
rs2989934	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2989938	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2992817	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs2992822	0.90[EUR][1000 genomes]
rs2992823	0.83[EUR][1000 genomes]
rs2992824	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2992825	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2992826	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2992828	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2992829	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3849909	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs521769	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs560833	0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs583076	0.93[YRI][hapmap]
rs61294221	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6476412	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs678859	0.83[AFR][1000 genomes]
rs7019561	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7023317	0.96[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7032025	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7032925	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7033908	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7047660	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73482878	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9644876	0.82[ASN][1000 genomes]
rs9696671	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024207	chr9:33296368-33574892	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv972306	chr9:33486353-33510883	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv427840	chr9:33495185-33989975	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:33475000-33510400	Weak transcription	Fetal Lung	lung
2	chr9:33475000-33510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:33478800-33510600	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:33495600-33510200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:33498200-33510400	Weak transcription	Fetal Stomach	stomach
6	chr9:33500000-33510600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:33500800-33510800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:33502800-33510600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:33502800-33510800	Weak transcription	Left Ventricle	heart
10	chr9:33504800-33510600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:33504800-33510600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:33505400-33510600	Weak transcription	Right Ventricle	heart
13	chr9:33506400-33510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:33506800-33510800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:33506800-33510800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:33506800-33510800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:33506800-33510800	Weak transcription	Esophagus	oesophagus
18	chr9:33507200-33510400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:33507200-33510400	Weak transcription	HepG2	liver
20	chr9:33507200-33510800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:33507400-33510200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:33507400-33510200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:33507400-33510200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:33507400-33510200	Weak transcription	HMEC	breast
25	chr9:33507400-33510200	Weak transcription	K562	blood
26	chr9:33507400-33510400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:33507400-33510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:33507400-33510400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:33507400-33510400	Weak transcription	A549	lung
30	chr9:33507400-33510400	Weak transcription	NH-A	brain
31	chr9:33507400-33510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:33507400-33510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:33507400-33510600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:33507400-33510600	Weak transcription	HSMMtube	muscle
35	chr9:33507400-33510600	Weak transcription	NHDF-Ad	bronchial
36	chr9:33507400-33510600	Weak transcription	NHLF	lung
37	chr9:33507400-33510800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:33507400-33510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:33507400-33510800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr9:33507400-33510800	Weak transcription	HSMM	muscle
41	chr9:33507600-33510400	Weak transcription	NHEK	skin
42	chr9:33508000-33509200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:33508000-33509200	Enhancers	Hela-S3	cervix
44	chr9:33508000-33510200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:33508200-33510400	Weak transcription	Osteobl	bone
46	chr9:33508800-33509200	Flanking Active TSS	HUVEC	blood vessel
47	chr9:33508800-33510200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:33508800-33510200	Enhancers	Dnd41	blood

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