Variant report

Variant	rs11792650
Chromosome Location	chr9:86401242-86401243
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86321345..86324567-chr9:86398481..86402531,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135018	Chromatin interaction
ENSG00000254473	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10116542	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10118300	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10125556	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10453251	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10746723	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10746724	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10780628	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10780629	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10780630	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10780632	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10780633	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10780634	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10868046	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10868047	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10868048	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10868052	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10868053	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10868054	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10868057	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10868059	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10868060	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10868061	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10868062	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10868063	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10868064	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11140236	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11140237	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11140239	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11140242	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11140243	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11140246	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11140247	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11140249	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12057022	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12057070	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12339076	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12344567	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1558922	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1582396	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17330622	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2080664	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2098494	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2111683	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2160821	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2160822	0.86[EUR][1000 genomes]
rs2287373	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2378660	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28584828	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs295269	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs295271	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs295272	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs295276	0.85[AMR][1000 genomes]
rs295280	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs295281	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs295282	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs295283	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs295284	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs295285	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs295286	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs295287	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs295292	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs295293	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3763622	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3763623	0.88[EUR][1000 genomes]
rs390893	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4242624	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4348579	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4385546	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4576496	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4750	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4877264	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4877265	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4877266	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4877802	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4877804	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4877809	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4877810	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4877811	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55881223	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56299907	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7021357	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7023396	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7031676	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7036960	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7042197	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7042776	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7044691	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7048546	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72749105	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7848686	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7849343	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7859179	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7864189	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7868930	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7874436	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7874454	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs918223	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9410590	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9410885	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044639	chr9:86252505-86412041	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv893513	chr9:86298632-86433459	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv973849	chr9:86394251-86402032	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv2761538	chr9:86401015-86451943	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86348400-86415400	Weak transcription	Fetal Heart	heart
2	chr9:86350000-86431600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:86350800-86407000	Weak transcription	Primary B cells from cord blood	blood
4	chr9:86352000-86411800	Weak transcription	Ovary	ovary
5	chr9:86353000-86432000	Weak transcription	Lung	lung
6	chr9:86363800-86412400	Weak transcription	HepG2	liver
7	chr9:86363800-86431200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr9:86364800-86412000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:86364800-86413400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:86367000-86413600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:86367400-86411800	Weak transcription	Brain Substantia Nigra	brain
12	chr9:86367600-86412000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr9:86373200-86411800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:86377000-86412600	Weak transcription	Brain Anterior Caudate	brain
15	chr9:86377200-86432000	Weak transcription	Gastric	stomach
16	chr9:86378400-86418400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:86380200-86431600	Weak transcription	Fetal Kidney	kidney
18	chr9:86381400-86411800	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:86383600-86425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:86385400-86409200	Weak transcription	Primary T cells from cord blood	blood
21	chr9:86388200-86411400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:86389000-86431600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:86391800-86411800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:86392000-86431600	Weak transcription	Psoas Muscle	Psoas
25	chr9:86392000-86431800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:86393400-86412000	Weak transcription	Brain Angular Gyrus	brain
27	chr9:86393600-86412400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr9:86394400-86431600	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:86394800-86412600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr9:86395000-86416400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:86395600-86417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:86396600-86403400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr9:86397000-86402400	Strong transcription	Liver	Liver
34	chr9:86397000-86420000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:86397400-86412200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr9:86397400-86413400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr9:86397400-86415600	Weak transcription	Brain Germinal Matrix	brain
38	chr9:86397400-86419400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr9:86397400-86423400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:86398600-86402200	Weak transcription	Fetal Brain Female	brain
41	chr9:86399000-86431000	Weak transcription	A549	lung
42	chr9:86399400-86408800	Weak transcription	Fetal Intestine Small	intestine
43	chr9:86399400-86408800	Weak transcription	Left Ventricle	heart
44	chr9:86399400-86409600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:86399400-86411400	Weak transcription	Aorta	Aorta
46	chr9:86399400-86411800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr9:86399400-86412000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:86399400-86412200	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:86399400-86412200	Weak transcription	Thymus	Thymus
50	chr9:86399400-86431000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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