Variant report

Variant	rs10993423
Chromosome Location	chr9:97735713-97735714
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97686977..97688717-chr9:97734724..97736919,2	MCF-7	breast:
2	chr9:97733399..97735846-chr9:97769206..97770842,2	MCF-7	breast:
3	chr9:97734273..97736580-chr9:97765840..97768486,2	MCF-7	breast:
4	chr9:97734614..97737497-chr9:97742689..97744554,2	MCF-7	breast:
5	chr9:97731595..97733537-chr9:97733949..97736819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10512250	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993358	1.00[GIH][hapmap]
rs10993359	0.86[GIH][hapmap]
rs10993371	1.00[GIH][hapmap]
rs10993409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10993412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993420	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993422	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993425	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993428	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993429	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993438	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993440	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993445	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993446	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993447	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993450	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236203	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236420	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236825	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12238576	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16911884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911886	0.90[CHB][hapmap]
rs16911887	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802457	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802458	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56855628	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57054200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58325577	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59246309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59630616	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7023719	0.85[JPT][hapmap]
rs7848018	0.90[CHB][hapmap];1.00[TSI][hapmap]
rs7857726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866661	0.90[CHB][hapmap];1.00[TSI][hapmap]
rs7867908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875287	0.86[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875888	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1045849	chr9:97688810-97741336	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97713800-97757400	Weak transcription	Fetal Brain Female	brain
3	chr9:97714200-97735800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:97715000-97758200	Weak transcription	Spleen	Spleen
5	chr9:97715200-97748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:97715400-97735800	Weak transcription	Right Ventricle	heart
7	chr9:97715400-97741200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr9:97715400-97749600	Weak transcription	Thymus	Thymus
9	chr9:97715600-97742000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr9:97715600-97742000	Weak transcription	Psoas Muscle	Psoas
11	chr9:97715600-97742400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:97716000-97742400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:97716600-97735800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:97718800-97736800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:97718800-97744000	Weak transcription	GM12878-XiMat	blood
16	chr9:97719000-97735800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:97719000-97743400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:97719000-97745800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:97719400-97735800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:97719400-97737800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr9:97719400-97739800	Weak transcription	Primary T cells from cord blood	blood
22	chr9:97719400-97746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:97719400-97747000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr9:97719600-97747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:97720800-97741600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:97724800-97743000	Weak transcription	Brain Angular Gyrus	brain
27	chr9:97724800-97743000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:97726800-97742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:97728000-97742800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:97728000-97754200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:97728200-97741400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:97730000-97737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:97731600-97743000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:97732000-97738000	Enhancers	HepG2	liver
35	chr9:97732600-97739800	Enhancers	Fetal Intestine Large	intestine
36	chr9:97732800-97742400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:97733400-97736200	Enhancers	Pancreas	Pancrea
38	chr9:97733400-97737000	Enhancers	Fetal Heart	heart
39	chr9:97733400-97737200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:97733400-97737800	Enhancers	Fetal Muscle Leg	muscle
41	chr9:97733400-97738000	Enhancers	Fetal Stomach	stomach
42	chr9:97733400-97757600	Weak transcription	Esophagus	oesophagus
43	chr9:97733800-97736000	Enhancers	Duodenum Mucosa	Duodenum
44	chr9:97733800-97737000	Enhancers	Aorta	Aorta
45	chr9:97733800-97738800	Enhancers	Fetal Kidney	kidney
46	chr9:97734000-97736000	Enhancers	Brain Hippocampus Middle	brain
47	chr9:97734000-97738600	Enhancers	Fetal Muscle Trunk	muscle
48	chr9:97734200-97737000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:97734200-97737200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr9:97734200-97737600	Enhancers	A549	lung

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