Variant report

Variant	rs7020150
Chromosome Location	chr9:102765606-102765607
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr9:102765373-102765815	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:102725264..102726847-chr9:102764305..102766386,2	K562	blood:
2	chr9:102765208..102767665-chr9:102771829..102774715,3	MCF-7	breast:
3	chr9:102711128..102712717-chr9:102764359..102766420,2	MCF-7	breast:

Variant related genes	Relation type
UPF3AP3	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10512269	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10760707	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10760708	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10760719	1.00[CEU][hapmap]
rs10819718	0.93[EUR][1000 genomes]
rs10819721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819725	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10819726	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10819727	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10819730	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10819731	1.00[CEU][hapmap]
rs10819732	1.00[CEU][hapmap]
rs10988932	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988936	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988944	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988948	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988952	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988954	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10988955	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988956	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988957	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988960	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988964	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988966	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988967	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988972	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988977	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10988978	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10988982	1.00[CEU][hapmap]
rs10988984	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10988988	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10988989	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10988993	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10988994	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10988996	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10989003	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10989004	1.00[CEU][hapmap]
rs10989007	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10989010	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10989013	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11515448	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998890	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12377746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs1415927	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs14297	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416986	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs57875316	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479004	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6479006	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7020780	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7021923	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7022643	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7023412	0.83[AMR][1000 genomes]
rs7025271	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7025412	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs7026341	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026529	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026567	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7028564	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7028939	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031081	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7041818	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7043946	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047193	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7047693	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7350268	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs73505717	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7849323	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7850961	0.91[AMR][1000 genomes]
rs7853497	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7854689	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7857556	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7858045	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7860268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs7860660	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7862614	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7866669	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7867803	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868020	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7868446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868632	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7870469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870701	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7872897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs7873545	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv968738	chr9:102760826-102768041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102699800-102765800	Weak transcription	Psoas Muscle	Psoas
2	chr9:102711400-102765800	Weak transcription	Right Ventricle	heart
3	chr9:102711400-102769200	Weak transcription	Osteobl	bone
4	chr9:102718000-102777600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:102729600-102826800	Weak transcription	HMEC	breast
6	chr9:102731000-102778200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:102751600-102765800	Weak transcription	Colonic Mucosa	Colon
8	chr9:102751800-102765800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:102751800-102765800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:102752200-102768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:102752200-102771600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:102757000-102765800	Weak transcription	Spleen	Spleen
13	chr9:102757400-102790600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:102758800-102767000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr9:102759600-102777000	Weak transcription	HUVEC	blood vessel
16	chr9:102760800-102783400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:102761000-102765800	Weak transcription	Fetal Stomach	stomach
18	chr9:102761000-102778200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:102761400-102765800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:102761400-102765800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:102761400-102765800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:102761600-102766400	Weak transcription	Stomach Mucosa	stomach
23	chr9:102762000-102790000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:102762200-102765800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:102762800-102765800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr9:102763400-102767800	Strong transcription	Primary T cells from cord blood	blood
27	chr9:102763400-102770000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:102763400-102783400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:102763600-102769800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:102763800-102765800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:102763800-102766600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:102763800-102767600	ZNF genes & repeats	Fetal Brain Female	brain
33	chr9:102763800-102773000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr9:102764000-102767600	ZNF genes & repeats	Fetal Lung	lung
35	chr9:102764000-102767800	Strong transcription	Primary B cells from cord blood	blood
36	chr9:102764200-102773400	Weak transcription	Fetal Heart	heart
37	chr9:102764200-102783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:102764600-102766400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:102764600-102766400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr9:102764600-102766800	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr9:102764600-102767000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:102764600-102767600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr9:102764600-102769600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:102764600-102770400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr9:102764600-102770400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr9:102764800-102766400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:102764800-102766800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:102764800-102767000	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr9:102764800-102770200	Strong transcription	Liver	Liver
50	chr9:102765000-102766200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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