Variant report

Variant	rs10993440
Chromosome Location	chr9:97751635-97751636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97674046..97692471-chr9:97747275..97760115,80	MCF-7	breast:
2	chr9:97443575..97445900-chr9:97751534..97753701,2	MCF-7	breast:
3	chr9:97579441..97581622-chr9:97750768..97752612,2	MCF-7	breast:
4	chr9:97543420..97548041-chr9:97751061..97760906,16	MCF-7	breast:
5	chr9:97750325..97752541-chr9:97755985..97759047,3	K562	blood:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10512250	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993409	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10993412	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993420	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993422	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993423	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993424	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993425	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993426	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993428	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993429	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993430	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993431	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993432	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993437	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993438	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993443	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993445	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993447	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993448	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993450	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236420	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236825	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12238576	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16911884	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911887	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802457	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802458	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56855628	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57054200	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58325577	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59246309	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59630616	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7857726	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875287	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875888	0.81[AMR][1000 genomes];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:71 , 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	chr9:97715000-97758200	Weak transcription	Spleen	Spleen
4	chr9:97728000-97754200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:97733400-97757600	Weak transcription	Esophagus	oesophagus
6	chr9:97734600-97757600	Weak transcription	Gastric	stomach
7	chr9:97736600-97757200	Weak transcription	NH-A	brain
8	chr9:97736600-97757400	Weak transcription	NHLF	lung
9	chr9:97736600-97757600	Weak transcription	Adipose Nuclei	Adipose
10	chr9:97736600-97757600	Weak transcription	Osteobl	bone
11	chr9:97736600-97766200	Weak transcription	Right Ventricle	heart
12	chr9:97737000-97757200	Weak transcription	Fetal Heart	heart
13	chr9:97737000-97758200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:97738000-97757600	Weak transcription	Lung	lung
15	chr9:97738200-97757600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:97738600-97753600	Weak transcription	Fetal Lung	lung
17	chr9:97738600-97757200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:97738600-97757400	Weak transcription	Left Ventricle	heart
19	chr9:97738600-97757600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:97738800-97754800	Weak transcription	NHDF-Ad	bronchial
21	chr9:97740200-97758200	Weak transcription	Placenta	Placenta
22	chr9:97741200-97758200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr9:97742400-97753000	Weak transcription	Fetal Intestine Large	intestine
24	chr9:97742600-97757400	Weak transcription	Psoas Muscle	Psoas
25	chr9:97742600-97763200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:97742800-97754400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:97743000-97752600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:97743000-97757000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:97743200-97752000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:97743200-97757200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:97743200-97759200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr9:97743400-97757600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:97743600-97758200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr9:97744000-97757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:97744000-97758200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:97744200-97757600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:97744200-97763200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:97744400-97754200	Weak transcription	Fetal Kidney	kidney
39	chr9:97744400-97757400	Weak transcription	Brain Angular Gyrus	brain
40	chr9:97744400-97757400	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:97744400-97757600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:97744800-97752000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:97744800-97754400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:97744800-97758200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:97745000-97757600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr9:97746000-97762000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:97746200-97757200	Weak transcription	HSMMtube	muscle
48	chr9:97746200-97757400	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:97746200-97758200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:97746200-97758200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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