Variant report

Variant	rs10993445
Chromosome Location	chr9:97758574-97758575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97391705..97394418-chr9:97757936..97760772,2	MCF-7	breast:
2	chr9:97757677..97760914-chr9:97764388..97768394,5	K562	blood:
3	chr9:97674046..97692471-chr9:97747275..97760115,80	MCF-7	breast:
4	chr9:97758403..97762885-chr9:97763631..97766514,4	K562	blood:
5	chr9:97750325..97752541-chr9:97755985..97759047,3	K562	blood:
6	chr9:97543420..97548041-chr9:97751061..97760906,16	MCF-7	breast:
7	chr9:97674991..97691307-chr9:97751911..97773298,151	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10512250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993423	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]
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[JPT][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	0.88[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]
rs10993446	1.00[CHB][hapmap];1.00[JPT][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];1.00[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	0.91[CHB][hapmap]
rs16911887	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802458	1.00[CHB][hapmap];1.00[JPT][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]
rs7857726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866661	0.90[CHB][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[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:78 , 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	chr9:97736600-97766200	Weak transcription	Right Ventricle	heart
3	chr9:97742600-97763200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:97743200-97759200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr9:97744200-97763200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:97746000-97762000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:97747400-97759200	Weak transcription	Primary T cells from cord blood	blood
8	chr9:97748600-97758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:97748600-97761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:97750000-97762200	Weak transcription	Thymus	Thymus
11	chr9:97752800-97762200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:97753600-97758600	Enhancers	Fetal Lung	lung
13	chr9:97754400-97759600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr9:97754600-97762400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:97755200-97766400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:97756200-97765000	Weak transcription	Fetal Intestine Large	intestine
17	chr9:97756200-97765000	Weak transcription	Fetal Intestine Small	intestine
18	chr9:97756400-97759600	Enhancers	Ovary	ovary
19	chr9:97757000-97759200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:97757000-97759400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:97757200-97759000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:97757200-97759000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:97757200-97759200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:97757200-97759200	Enhancers	Fetal Kidney	kidney
25	chr9:97757200-97759400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr9:97757200-97759400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr9:97757200-97759400	Enhancers	HSMMtube	muscle
28	chr9:97757200-97759400	Enhancers	NH-A	brain
29	chr9:97757200-97759800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:97757400-97758800	Enhancers	Psoas Muscle	Psoas
31	chr9:97757400-97759000	Enhancers	Aorta	Aorta
32	chr9:97757400-97759000	Enhancers	Brain Anterior Caudate	brain
33	chr9:97757400-97759000	Enhancers	Brain Hippocampus Middle	brain
34	chr9:97757400-97759000	Enhancers	Fetal Muscle Leg	muscle
35	chr9:97757400-97759000	Enhancers	Left Ventricle	heart
36	chr9:97757400-97759000	Enhancers	NHLF	lung
37	chr9:97757400-97759400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr9:97757400-97759400	Enhancers	Fetal Stomach	stomach
39	chr9:97757400-97759400	Enhancers	Stomach Mucosa	stomach
40	chr9:97757400-97759600	Enhancers	Colon Smooth Muscle	Colon
41	chr9:97757600-97758600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:97757600-97758600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:97757600-97758800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:97757600-97759000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:97757600-97759000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:97757600-97759000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:97757600-97759000	Enhancers	Lung	lung
48	chr9:97757600-97759000	Enhancers	Right Atrium	heart
49	chr9:97757600-97759000	Enhancers	Osteobl	bone
50	chr9:97757600-97759200	Enhancers	NHDF-Ad	bronchial

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