Variant report

Variant	rs72761965
Chromosome Location	chr9:116262325-116262326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:116262291-116262341	NHBE	bronchial:	n/a
2	chr9:116262291-116262341	K562	blood:	n/a
3	chr9:116262291-116262341	HCF	heart:	n/a
4	chr9:116262291-116262341	SAEC	small airway:	n/a
5	chr9:116262291-116262341	SK-N-SH_RA	brain:	n/a
6	chr9:116262291-116262341	ovcar-3	ovarian:	n/a
7	chr9:116262291-116262341	NH-A	brain:	n/a
8	chr9:116262291-116262341	HAEpiC	amniotic membrane:	n/a
9	chr9:116262291-116262341	IMR90	lung:	fetal
10	chr9:116262291-116262341	ECC-1	luminal epithelium:	n/a
11	chr9:116262291-116262341	HCPEpiC	choroid plexus:	n/a
12	chr9:116262291-116262341	CMK	blood:	n/a
13	chr9:116262291-116262341	GM12892	blood:	n/a
14	chr9:116262291-116262341	HL-60	blood:	n/a
15	chr9:116262291-116262341	PFSK-1	brain:	n/a
16	chr9:116262291-116262341	AG09319	gingival:	n/a
17	chr9:116262291-116262341	NB4	blood:	n/a
18	chr9:116262291-116262341	AG04449	skin:	fetal
19	chr9:116262291-116262341	GM12891	blood:	n/a
20	chr9:116262291-116262341	SK-N-MC	brain:	n/a
21	chr9:116262291-116262341	NT2-D1	testis:	n/a
22	chr9:116262291-116262341	A549	lung:	n/a
23	chr9:116262291-116262341	LNCaP	prostate:	n/a
24	chr9:116262291-116262341	RPTEC	kidney:	n/a
25	chr9:116262291-116262341	HUVEC	blood vessel:	n/a
26	chr9:116262291-116262341	ProgFib	skin:	n/a
27	chr9:116262291-116262341	SKMC	muscle:	n/a
28	chr9:116262291-116262341	HMEC	breast:	n/a
29	chr9:116262291-116262341	HRE	kidney:	n/a
30	chr9:116262291-116262341	PANC-1	pancreas:	n/a
31	chr9:116262291-116262341	HPAEpiC	pulmonary alveolar:	n/a
32	chr9:116262291-116262341	HIPEpiC	eye:	n/a
33	chr9:116262291-116262341	HEK293	kidney:	embryo
34	chr9:116262291-116262341	HEEpiC	esophagus:	n/a
35	chr9:116262291-116262341	BJ	skin:	n/a
36	chr9:116262291-116262341	T-47D	breast:	n/a
37	chr9:116262291-116262341	NHDF-neo	bronchial:	n/a
38	chr9:116262291-116262341	MCF-7	breast:	n/a
39	chr9:116262291-116262341	GM06990	blood:	n/a
40	chr9:116262291-116262341	PrEC	prostate:	n/a
41	chr9:116262291-116262341	HCM	heart:	n/a
42	chr9:116262291-116262341	HRPEpiC	eye:	n/a
43	chr9:116262291-116262341	AG09309	skin:	n/a
44	chr9:116262291-116262341	HCT-116	colon:	n/a
45	chr9:116262291-116262341	Caco-2	colon:	n/a
46	chr9:116262291-116262341	HNPCEpiC	eye:	n/a
47	chr9:116262291-116262341	MCF10A-Er-Src	breast:	n/a
48	chr9:116262291-116262341	Jurkat	blood:	n/a
49	chr9:116262291-116262341	BE2_C	brain:	n/a
50	chr9:116262291-116262341	HepG2	liver:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116259892..116262727-chr9:116263067..116266319,3	MCF-7	breast:
2	chr9:116224980..116228054-chr9:116260293..116265292,4	MCF-7	breast:
3	chr9:116261921..116264441-chr9:116267312..116269535,2	MCF-7	breast:
4	chr9:116260634..116263003-chr9:116269151..116271468,2	MCF-7	breast:

No data

Variant related genes	Relation type
RGS3	CpG island
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10125960	0.94[AFR][1000 genomes]
rs10217237	0.94[AFR][1000 genomes]
rs10217750	0.94[AFR][1000 genomes]
rs10217756	0.94[AFR][1000 genomes]
rs10481640	0.94[AFR][1000 genomes]
rs10481676	0.94[AFR][1000 genomes]
rs10481677	0.85[AFR][1000 genomes]
rs10981793	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981794	0.92[AFR][1000 genomes]
rs10981803	0.92[AFR][1000 genomes]
rs10981807	0.87[AFR][1000 genomes]
rs10981808	0.87[AFR][1000 genomes]
rs10981814	0.87[AFR][1000 genomes]
rs10981815	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981816	0.87[AFR][1000 genomes]
rs10981817	0.87[AFR][1000 genomes]
rs10981819	0.89[AFR][1000 genomes]
rs10981820	0.87[AFR][1000 genomes]
rs10981821	0.87[AFR][1000 genomes]
rs10981825	0.86[AFR][1000 genomes]
rs10981826	0.86[AFR][1000 genomes]
rs10981827	0.86[AFR][1000 genomes]
rs10981830	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981832	0.81[AFR][1000 genomes]
rs12335991	0.94[AFR][1000 genomes]
rs12336719	0.92[AFR][1000 genomes]
rs12337340	0.83[AFR][1000 genomes]
rs12338221	0.93[AFR][1000 genomes]
rs12338588	0.87[AFR][1000 genomes]
rs12338697	0.84[AFR][1000 genomes]
rs12338701	0.84[AFR][1000 genomes]
rs12338788	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12339493	0.85[AFR][1000 genomes]
rs12339617	0.89[AFR][1000 genomes]
rs12339851	0.94[AFR][1000 genomes]
rs12340996	0.92[AFR][1000 genomes]
rs12341332	0.82[AFR][1000 genomes]
rs12342508	0.94[AFR][1000 genomes]
rs12342699	0.87[AFR][1000 genomes]
rs12343129	0.82[AFR][1000 genomes]
rs12343141	0.87[AFR][1000 genomes]
rs12344334	0.86[AFR][1000 genomes]
rs12344578	0.87[AFR][1000 genomes]
rs12344964	0.94[AFR][1000 genomes]
rs12345524	0.87[AFR][1000 genomes]
rs12346076	0.87[AFR][1000 genomes]
rs12346087	0.85[AFR][1000 genomes]
rs12346939	0.94[AFR][1000 genomes]
rs12347382	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347895	0.85[AFR][1000 genomes]
rs12351728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187621	0.83[EUR][1000 genomes]
rs17525042	0.86[ASN][1000 genomes]
rs17553698	0.86[ASN][1000 genomes]
rs1890992	0.86[AFR][1000 genomes]
rs2050865	0.92[AFR][1000 genomes]
rs2050866	0.92[AFR][1000 genomes]
rs28694002	0.87[AFR][1000 genomes]
rs28709996	0.94[AFR][1000 genomes]
rs28714985	0.87[AFR][1000 genomes]
rs34106027	0.86[ASN][1000 genomes]
rs34142167	0.86[ASN][1000 genomes]
rs35120599	0.86[ASN][1000 genomes]
rs35270441	0.92[AFR][1000 genomes]
rs35329679	0.86[ASN][1000 genomes]
rs3761819	0.86[ASN][1000 genomes]
rs3810925	0.86[ASN][1000 genomes]
rs3810926	0.86[ASN][1000 genomes]
rs3827674	0.86[ASN][1000 genomes]
rs3983381	0.86[AFR][1000 genomes]
rs41276809	0.86[ASN][1000 genomes]
rs41301525	0.85[AFR][1000 genomes]
rs41305473	0.85[AFR][1000 genomes]
rs41312200	0.86[ASN][1000 genomes]
rs41316948	0.86[ASN][1000 genomes]
rs4596719	0.92[AFR][1000 genomes]
rs55676913	0.94[AFR][1000 genomes]
rs55714377	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55777057	0.86[AFR][1000 genomes]
rs55931715	0.86[AFR][1000 genomes]
rs55977108	0.87[AFR][1000 genomes]
rs56155263	0.85[AFR][1000 genomes]
rs56276438	0.86[AFR][1000 genomes]
rs56390346	0.86[AFR][1000 genomes]
rs6478011	0.94[AFR][1000 genomes]
rs6478016	0.94[AFR][1000 genomes]
rs6478017	0.94[AFR][1000 genomes]
rs6478022	0.86[AFR][1000 genomes]
rs6478023	0.86[AFR][1000 genomes]
rs7018783	0.87[AFR][1000 genomes]
rs7020623	0.94[AFR][1000 genomes]
rs7021491	0.94[AFR][1000 genomes]
rs7023661	0.94[AFR][1000 genomes]
rs7024445	0.86[AFR][1000 genomes]
rs7024612	0.86[AFR][1000 genomes]
rs7024996	0.85[AFR][1000 genomes]
rs7025170	0.86[AFR][1000 genomes]
rs7025745	0.87[AFR][1000 genomes]
rs7026568	0.92[AFR][1000 genomes]
rs7026656	0.92[AFR][1000 genomes]
rs7027024	0.92[AFR][1000 genomes]
rs7027340	0.94[AFR][1000 genomes]
rs7028327	0.94[AFR][1000 genomes]
rs7029685	0.87[AFR][1000 genomes]
rs7033679	0.94[AFR][1000 genomes]
rs7037441	0.87[AFR][1000 genomes]
rs7037761	0.94[AFR][1000 genomes]
rs7040031	0.94[AFR][1000 genomes]
rs7040635	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7042290	0.94[AFR][1000 genomes]
rs7042695	0.87[AFR][1000 genomes]
rs7042968	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7043140	0.92[AFR][1000 genomes]
rs7045347	0.94[AFR][1000 genomes]
rs7046202	0.94[AFR][1000 genomes]
rs7046427	0.87[AFR][1000 genomes]
rs7047062	0.85[AFR][1000 genomes]
rs7049221	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72760096	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72761903	0.90[AFR][1000 genomes]
rs72761905	0.94[AFR][1000 genomes]
rs72761906	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761963	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761964	0.94[AFR][1000 genomes]
rs72761966	0.92[AFR][1000 genomes]
rs72761969	0.94[AFR][1000 genomes]
rs72761971	0.94[AFR][1000 genomes]
rs72761973	0.94[AFR][1000 genomes]
rs72761978	0.94[AFR][1000 genomes]
rs72761987	0.92[AFR][1000 genomes]
rs72761992	0.87[AFR][1000 genomes]
rs72761994	0.87[AFR][1000 genomes]
rs72761999	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72762002	0.87[AFR][1000 genomes]
rs72763803	0.86[AFR][1000 genomes]
rs72763804	0.87[AFR][1000 genomes]
rs72763826	0.85[AFR][1000 genomes]
rs72763828	0.83[AFR][1000 genomes]
rs72763831	0.85[AFR][1000 genomes]
rs72763841	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72763842	0.85[AFR][1000 genomes]
rs72763846	0.84[AFR][1000 genomes]
rs7848203	0.94[AFR][1000 genomes]
rs7849841	0.94[AFR][1000 genomes]
rs7851718	0.87[AFR][1000 genomes]
rs7851937	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7852118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853373	0.87[AFR][1000 genomes]
rs7853792	0.89[AFR][1000 genomes]
rs7854197	0.87[AFR][1000 genomes]
rs7854524	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7855325	0.87[AFR][1000 genomes]
rs7855434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7856689	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7857217	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7857943	0.85[AFR][1000 genomes]
rs7860673	0.94[AFR][1000 genomes]
rs7861248	0.94[AFR][1000 genomes]
rs7863159	0.85[AFR][1000 genomes]
rs7864467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864645	0.94[AFR][1000 genomes]
rs7864816	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7867203	0.83[AFR][1000 genomes]
rs7867353	0.89[AFR][1000 genomes]
rs7867430	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7870142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870227	0.87[AFR][1000 genomes]
rs7870265	0.93[AFR][1000 genomes]
rs7870912	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871186	0.85[AFR][1000 genomes]
rs7872283	0.94[AFR][1000 genomes]
rs883025	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs884898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs884899	0.84[AFR][1000 genomes]
rs9299215	0.94[AFR][1000 genomes]
rs944345	0.86[AFR][1000 genomes]
rs944346	0.86[AFR][1000 genomes]
rs9657641	0.85[AFR][1000 genomes]
rs9657658	0.82[AFR][1000 genomes]
rs9657659	0.85[AFR][1000 genomes]
rs9785299	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116227400-116263800	Weak transcription	Colonic Mucosa	Colon
2	chr9:116242000-116263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:116242000-116266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:116251000-116263800	Weak transcription	Esophagus	oesophagus
5	chr9:116251200-116263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
7	chr9:116252400-116273200	Weak transcription	Pancreas	Pancrea
8	chr9:116255400-116264000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:116255400-116264200	Weak transcription	Fetal Kidney	kidney
10	chr9:116255600-116263000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr9:116255600-116265400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:116255600-116266600	Weak transcription	Stomach Mucosa	stomach
13	chr9:116255600-116269400	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:116255600-116275800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:116255800-116263800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:116255800-116263800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:116255800-116264800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:116256000-116262400	Weak transcription	Right Ventricle	heart
19	chr9:116256000-116264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:116256800-116263800	Strong transcription	Fetal Intestine Small	intestine
21	chr9:116257000-116262400	Weak transcription	Left Ventricle	heart
22	chr9:116257400-116270800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr9:116257800-116262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr9:116257800-116263400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr9:116257800-116263600	Weak transcription	Spleen	Spleen
26	chr9:116258600-116263800	Weak transcription	Fetal Intestine Large	intestine
27	chr9:116259000-116262400	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:116259200-116274000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:116259200-116274200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:116259600-116263800	Strong transcription	Fetal Stomach	stomach
31	chr9:116259800-116263800	Weak transcription	Gastric	stomach
32	chr9:116260200-116263600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:116260200-116265400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:116261600-116262600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr9:116261600-116262600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr9:116261600-116262800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:116261600-116263000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:116261600-116263000	Enhancers	Primary T cells from cord blood	blood
39	chr9:116261600-116263000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr9:116261600-116263000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr9:116261600-116263000	Strong transcription	HepG2	liver
42	chr9:116261600-116264600	Enhancers	Fetal Heart	heart
43	chr9:116261800-116262600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr9:116261800-116262600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr9:116261800-116262800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr9:116261800-116262800	Enhancers	Fetal Thymus	thymus
47	chr9:116261800-116262800	Enhancers	Lung	lung
48	chr9:116261800-116263600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:116261800-116263800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr9:116262000-116262400	Genic enhancers	Fetal Muscle Trunk	muscle

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