Variant report

Variant	rs7049221
Chromosome Location	chr9:116302382-116302383
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116292438..116296371-chr9:116301107..116304179,5	MCF-7	breast:
2	chr9:116301103..116303347-chr9:116416136..116418556,2	MCF-7	breast:
3	chr9:116301885..116305210-chr9:116340890..116344493,4	MCF-7	breast:
4	chr9:116301311..116304272-chr9:116334928..116337011,2	K562	blood:
5	chr9:116298110..116300463-chr9:116300686..116303840,3	MCF-7	breast:
6	chr9:116294683..116297585-chr9:116300975..116302682,2	K562	blood:
7	chr9:116300316..116303896-chr9:116325098..116329070,4	MCF-7	breast:
8	chr9:116302074..116305216-chr9:116309101..116311289,3	MCF-7	breast:
9	chr9:116299205..116302813-chr9:116303300..116305128,3	K562	blood:
10	chr9:116283823..116285851-chr9:116302010..116304972,2	MCF-7	breast:

No data

Variant related genes	Relation type
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	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs10217237	0.90[AFR][1000 genomes]
rs10217750	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs10217756	0.90[AFR][1000 genomes]
rs10481640	0.90[AFR][1000 genomes]
rs10481676	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs10481677	0.94[AFR][1000 genomes]
rs10981793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10981794	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs10981803	0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs10981807	0.97[AFR][1000 genomes]
rs10981808	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs10981814	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10981815	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981816	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10981817	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10981819	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10981820	0.97[AFR][1000 genomes]
rs10981821	0.97[AFR][1000 genomes]
rs10981825	0.96[AFR][1000 genomes]
rs10981826	0.96[AFR][1000 genomes]
rs10981827	0.96[AFR][1000 genomes]
rs10981830	0.85[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981832	0.87[AFR][1000 genomes]
rs10981834	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981835	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12335991	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs12336719	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs12337340	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12338221	0.89[AFR][1000 genomes]
rs12338588	0.89[AFR][1000 genomes]
rs12338697	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12338701	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12338788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12339493	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12339617	0.95[YRI][hapmap];0.96[AFR][1000 genomes]
rs12339851	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs12340996	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs12341332	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12342508	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs12342699	0.89[AFR][1000 genomes]
rs12343129	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12343141	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs12344334	0.96[AFR][1000 genomes]
rs12344578	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs12344964	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs12345524	0.94[YRI][hapmap];0.97[AFR][1000 genomes]
rs12346076	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs12346087	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12346939	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs12347382	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12347895	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12351728	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1890992	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs2050865	0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs2050866	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs28694002	0.97[AFR][1000 genomes]
rs28709996	0.90[AFR][1000 genomes]
rs28714985	0.97[AFR][1000 genomes]
rs35270441	0.93[AFR][1000 genomes]
rs3747813	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3761819	1.00[CHB][hapmap]
rs3810925	1.00[CHB][hapmap]
rs3810926	1.00[CHB][hapmap]
rs3827674	1.00[CHB][hapmap]
rs3983381	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs41301525	0.92[AFR][1000 genomes]
rs41305473	0.92[AFR][1000 genomes]
rs41306506	1.00[ASN][1000 genomes]
rs4596719	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs4979257	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs55676913	0.90[AFR][1000 genomes]
rs55714377	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs55777057	0.96[AFR][1000 genomes]
rs55931715	0.96[AFR][1000 genomes]
rs55977108	0.97[AFR][1000 genomes]
rs56155263	0.91[AFR][1000 genomes]
rs56276438	0.96[AFR][1000 genomes]
rs56390346	0.96[AFR][1000 genomes]
rs6478011	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs6478016	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6478017	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs6478022	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6478023	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7018783	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7020623	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7021491	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7023661	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7024445	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7024612	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7024996	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7025170	0.96[AFR][1000 genomes]
rs7025745	0.97[AFR][1000 genomes]
rs7026568	0.93[AFR][1000 genomes]
rs7026656	0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs7027024	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7027340	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7028327	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7029685	0.97[AFR][1000 genomes]
rs7033679	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7037441	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs7037761	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7040031	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7040635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7041833	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs7042290	0.90[AFR][1000 genomes]
rs7042695	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs7042968	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7043140	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7045347	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7046202	0.90[AFR][1000 genomes]
rs7046427	0.94[YRI][hapmap];0.97[AFR][1000 genomes]
rs7047062	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7048208	0.81[AFR][1000 genomes]
rs72760096	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72761903	0.89[AFR][1000 genomes]
rs72761905	0.90[AFR][1000 genomes]
rs72761906	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72761963	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72761964	0.90[AFR][1000 genomes]
rs72761965	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72761966	0.87[AFR][1000 genomes]
rs72761969	0.90[AFR][1000 genomes]
rs72761971	0.90[AFR][1000 genomes]
rs72761973	0.90[AFR][1000 genomes]
rs72761978	0.90[AFR][1000 genomes]
rs72761987	0.93[AFR][1000 genomes]
rs72761992	0.97[AFR][1000 genomes]
rs72761994	0.97[AFR][1000 genomes]
rs72761999	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762002	0.97[AFR][1000 genomes]
rs72763803	0.93[AFR][1000 genomes]
rs72763804	0.97[AFR][1000 genomes]
rs72763826	0.92[AFR][1000 genomes]
rs72763828	0.87[AFR][1000 genomes]
rs72763831	0.92[AFR][1000 genomes]
rs72763841	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763842	0.92[AFR][1000 genomes]
rs72763843	0.83[AFR][1000 genomes]
rs72763846	0.90[AFR][1000 genomes]
rs72763856	0.81[EUR][1000 genomes]
rs72763857	0.84[EUR][1000 genomes]
rs7848203	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7849841	0.90[AFR][1000 genomes]
rs7851718	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7851937	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7852118	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7853373	0.97[AFR][1000 genomes]
rs7853792	0.95[YRI][hapmap];0.96[AFR][1000 genomes]
rs7854197	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7854524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855325	0.93[YRI][hapmap];0.97[AFR][1000 genomes]
rs7855434	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7856689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7857217	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7857943	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7860673	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7861248	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7863159	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7864467	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7864645	0.90[AFR][1000 genomes]
rs7864816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7867353	0.95[YRI][hapmap];0.96[AFR][1000 genomes]
rs7870142	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7870227	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7870265	0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs7870451	0.90[YRI][hapmap]
rs7870912	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs7871186	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7872084	0.83[AFR][1000 genomes]
rs7872283	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs883025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs884898	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs884899	0.93[AFR][1000 genomes]
rs9299215	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs944345	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs944346	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9657641	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9657658	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs9657659	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9785299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116269400-116303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:116287000-116311600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:116287400-116306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:116287400-116309200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:116287600-116302800	Strong transcription	Fetal Intestine Large	intestine
6	chr9:116288000-116308600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:116288800-116308200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr9:116288800-116308200	Strong transcription	HUVEC	blood vessel
9	chr9:116289000-116306600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:116289000-116308400	Strong transcription	GM12878-XiMat	blood
11	chr9:116289600-116310000	Weak transcription	Fetal Kidney	kidney
12	chr9:116291000-116310600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:116291600-116310400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:116292000-116302800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:116293600-116303600	Weak transcription	Hela-S3	cervix
16	chr9:116295400-116303000	Weak transcription	A549	lung
17	chr9:116295800-116306000	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr9:116296200-116307000	Strong transcription	HepG2	liver
19	chr9:116296600-116304000	Weak transcription	Small Intestine	intestine
20	chr9:116297400-116306600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr9:116297600-116308400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:116297800-116306200	Enhancers	Fetal Heart	heart
23	chr9:116297800-116306600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:116298200-116306400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:116298400-116309400	Strong transcription	Primary T cells from cord blood	blood
26	chr9:116298600-116304400	Strong transcription	Liver	Liver
27	chr9:116298800-116310600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:116299000-116303000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:116299000-116303000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:116299000-116303200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:116299000-116303200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:116299000-116304800	Strong transcription	Fetal Intestine Small	intestine
33	chr9:116299000-116310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr9:116299200-116302800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:116299200-116302800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:116299200-116302800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr9:116299200-116303000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:116299200-116305400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr9:116299200-116307400	Weak transcription	Colon Smooth Muscle	Colon
40	chr9:116299400-116302800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:116299400-116303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:116299400-116310600	Weak transcription	Thymus	Thymus
43	chr9:116299600-116303000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:116299600-116308800	Weak transcription	Psoas Muscle	Psoas
45	chr9:116299600-116309200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:116299600-116310600	Weak transcription	NHLF	lung
47	chr9:116299800-116303000	Weak transcription	Fetal Lung	lung
48	chr9:116299800-116303000	Weak transcription	Stomach Mucosa	stomach
49	chr9:116300000-116302800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr9:116300000-116303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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