Variant report

Variant	rs10993377
Chromosome Location	chr9:97630827-97630828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97628489..97631594-chr9:97765586..97768215,3	MCF-7	breast:
2	chr9:97627475..97632236-chr9:97687625..97689828,4	MCF-7	breast:
3	chr9:97630487..97632741-chr9:97640057..97642082,2	MCF-7	breast:
4	chr9:97581096..97584507-chr9:97628136..97631162,3	MCF-7	breast:
5	chr9:97630097..97631954-chr9:97679073..97680785,2	MCF-7	breast:
6	chr9:97613776..97615491-chr9:97629001..97631689,2	MCF-7	breast:
7	chr9:97621507..97626749-chr9:97626893..97633201,8	MCF-7	breast:
8	chr9:97629113..97631715-chr9:97662982..97664521,2	MCF-7	breast:
9	chr9:97580323..97584825-chr9:97627426..97631044,6	MCF-7	breast:
10	chr9:97586655..97589155-chr9:97630334..97631988,2	MCF-7	breast:
11	chr9:97629078..97631329-chr9:97854502..97856532,2	MCF-7	breast:
12	chr9:97629614..97631229-chr9:97851133..97852675,2	MCF-7	breast:
13	chr9:97626766..97634519-chr9:97675095..97684236,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1016013	0.82[EUR][1000 genomes]
rs10821401	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10993365	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10993370	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10993372	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10993394	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993397	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993398	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993418	0.86[EUR][1000 genomes]
rs1123534	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11787821	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12235316	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1751434	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs183066	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2183958	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2584806	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28540393	0.88[EUR][1000 genomes]
rs35487382	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs356131	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs356141	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs368138	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs391784	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs414253	0.80[EUR][1000 genomes]
rs4385527	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446540	0.89[EUR][1000 genomes]
rs4744378	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4744403	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4744411	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7019720	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7026071	0.81[EUR][1000 genomes]
rs7851726	0.85[EUR][1000 genomes]
rs7853195	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7864171	0.82[EUR][1000 genomes]
rs7865239	0.85[EUR][1000 genomes]
rs7866848	0.85[EUR][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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97624200-97632800	Weak transcription	Thymus	Thymus
2	chr9:97624800-97632800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr9:97625000-97632000	Weak transcription	Primary T cells from cord blood	blood
4	chr9:97625000-97637800	Weak transcription	Primary B cells from cord blood	blood
5	chr9:97625200-97631800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr9:97625400-97631800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:97625400-97632200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr9:97625600-97632800	Weak transcription	Dnd41	blood
9	chr9:97626000-97638200	Enhancers	HSMM	muscle
10	chr9:97626000-97638400	Enhancers	HSMMtube	muscle
11	chr9:97626200-97632400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:97626400-97632800	Weak transcription	Right Ventricle	heart
13	chr9:97626600-97631600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:97626600-97631600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:97626600-97631800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr9:97626800-97632000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr9:97627200-97631000	Enhancers	Brain Angular Gyrus	brain
18	chr9:97627200-97638000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:97627400-97637800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:97627600-97631200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr9:97627800-97631800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr9:97628000-97631000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:97628200-97631200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:97628600-97631000	Enhancers	Liver	Liver
25	chr9:97628600-97631000	Enhancers	Brain Anterior Caudate	brain
26	chr9:97628600-97631000	Enhancers	Fetal Intestine Small	intestine
27	chr9:97628600-97633200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:97628600-97641000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr9:97629000-97631000	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr9:97629000-97632400	Enhancers	Stomach Mucosa	stomach
31	chr9:97629200-97631000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr9:97629200-97631200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:97629200-97631200	Enhancers	Fetal Kidney	kidney
34	chr9:97629200-97631200	Enhancers	Fetal Muscle Leg	muscle
35	chr9:97629200-97634600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr9:97629200-97635800	Enhancers	HMEC	breast
37	chr9:97629200-97636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:97629400-97631000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr9:97629600-97631000	Flanking Active TSS	Hela-S3	cervix
40	chr9:97629600-97632000	Enhancers	Ovary	ovary
41	chr9:97629600-97632200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:97629600-97632800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:97629600-97635200	Enhancers	Placenta	Placenta
44	chr9:97629800-97631000	Enhancers	Colonic Mucosa	Colon
45	chr9:97629800-97631200	Flanking Active TSS	A549	lung
46	chr9:97629800-97631800	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:97629800-97632000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:97629800-97633200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr9:97630000-97631000	Enhancers	Brain Hippocampus Middle	brain
50	chr9:97630000-97631000	Enhancers	Brain Inferior Temporal Lobe	brain

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