Variant report

Variant	rs3018158
Chromosome Location	chr11:77625364-77625365
allele	C/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	ZNF263	chr11:77625248-77625708	HEK293-T-REx	kidney:	n/a	n/a
2	JUND	chr11:77625235-77625666	HepG2	liver:	n/a	chr11:77625451-77625463 chr11:77625453-77625461 chr11:77625451-77625462
3	FOXA2	chr11:77625129-77625733	A549	lung:	n/a	n/a
4	POLR2A	chr11:77625194-77625684	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr11:77625158-77625870	HepG2	liver:	n/a	n/a
6	SIN3AK20	chr11:77625270-77625487	HepG2	liver:	n/a	n/a
7	FOXA1	chr11:77625329-77625752	HepG2	liver:	n/a	n/a
8	NFIC	chr11:77625247-77625833	HepG2	liver:	n/a	chr11:77625480-77625497
9	JUND	chr11:77625179-77625945	HepG2	liver:	n/a	chr11:77625181-77625195 chr11:77625451-77625463 chr11:77625453-77625461 chr11:77625451-77625462
10	NFIC	chr11:77625354-77625755	HepG2	liver:	n/a	chr11:77625480-77625497
11	SIN3AK20	chr11:77625209-77625650	HepG2	liver:	n/a	n/a
12	SP1	chr11:77625086-77625983	HepG2	liver:	n/a	n/a
13	RCOR1	chr11:77625355-77625846	IMR90	lung:	n/a	n/a
14	POLR2A	chr11:77625233-77625601	PANC-1	pancreas:	n/a	n/a
15	RXRA	chr11:77625161-77625731	HepG2	liver:	n/a	chr11:77625540-77625549
16	TCF12	chr11:77625273-77625584	HepG2	liver:	n/a	n/a
17	FOS	chr11:77625363-77625643	MCF10A-Er-Src	breast:	n/a	chr11:77625451-77625463 chr11:77625453-77625461
18	FOS	chr11:77625275-77625652	MCF10A-Er-Src	breast:	n/a	chr11:77625451-77625463 chr11:77625453-77625461
19	POLR2A	chr11:77625302-77625660	SK-N-MC	brain:	n/a	n/a
20	FOXA1	chr11:77625063-77625936	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:77624897-77626153	PFSK-1	brain:	n/a	n/a
22	FOXA2	chr11:77625097-77625741	A549	lung:	n/a	n/a
23	FOXA2	chr11:77625354-77625801	HepG2	liver:	n/a	n/a
24	FOS	chr11:77625303-77625644	MCF10A-Er-Src	breast:	n/a	chr11:77625451-77625463 chr11:77625453-77625461
25	HEY1	chr11:77625182-77625716	HepG2	liver:	n/a	n/a
26	FOSL2	chr11:77625153-77625727	HepG2	liver:	n/a	chr11:77625181-77625195 chr11:77625451-77625463 chr11:77625453-77625461
27	FOXA1	chr11:77625310-77625916	HepG2	liver:	n/a	n/a
28	FOSL2	chr11:77625032-77625746	HepG2	liver:	n/a	chr11:77625181-77625195 chr11:77625451-77625463 chr11:77625453-77625461
29	MYBL2	chr11:77624888-77625975	HepG2	liver:	n/a	n/a
30	FOXA1	chr11:77625326-77625838	HepG2	liver:	n/a	n/a
31	EP300	chr11:77625324-77625763	HepG2	liver:	n/a	chr11:77625436-77625446 chr11:77625535-77625549
32	KAP1	chr11:77625252-77625733	U2OS	brain:	n/a	chr11:77625451-77625460
33	FOXP2	chr11:77625215-77625709	PFSK-1	brain:	n/a	n/a
34	MYBL2	chr11:77625164-77625970	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:77624884-77625828	PFSK-1	brain:	n/a	n/a
36	USF1	chr11:77625241-77625434	HepG2	liver:	n/a	n/a
37	EP300	chr11:77625323-77625701	HepG2	liver:	n/a	chr11:77625436-77625446 chr11:77625535-77625549
38	RXRA	chr11:77625108-77625484	HepG2	liver:	n/a	n/a
39	FOS	chr11:77625295-77625784	MCF10A-Er-Src	breast:	n/a	chr11:77625451-77625463 chr11:77625453-77625461

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77624320..77625883-chr11:77704259..77705967,2	MCF-7	breast:

Variant related genes	Relation type
INTS4	TF binding region
ENSG00000149262	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10899415	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899417	0.83[EUR][1000 genomes]
rs11534589	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11559637	0.81[EUR][1000 genomes]
rs11601908	0.82[EUR][1000 genomes]
rs11823006	0.82[EUR][1000 genomes]
rs12786047	0.81[EUR][1000 genomes]
rs12789522	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12796422	0.81[EUR][1000 genomes]
rs12801444	0.82[EUR][1000 genomes]
rs1790238	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1790244	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790245	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790256	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790258	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1793329	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1793331	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1793338	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793344	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276349	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2510964	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511454	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3018156	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3018167	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3018411	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592748	0.84[EUR][1000 genomes]
rs6592751	0.81[EUR][1000 genomes]
rs7115539	0.80[EUR][1000 genomes]
rs7119390	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7120314	0.81[EUR][1000 genomes]
rs7124835	0.81[EUR][1000 genomes]
rs7939854	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950529	0.81[EUR][1000 genomes]
rs9704476	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv972897	chr11:77622081-77628075	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77577400-77630800	Weak transcription	Fetal Heart	heart
2	chr11:77583400-77670600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:77583400-77690000	Weak transcription	Colonic Mucosa	Colon
4	chr11:77591800-77650400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:77592800-77690000	Weak transcription	Small Intestine	intestine
6	chr11:77595800-77671000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:77597600-77629400	Weak transcription	Brain Germinal Matrix	brain
8	chr11:77597800-77625600	Weak transcription	HSMM	muscle
9	chr11:77597800-77629000	Weak transcription	Aorta	Aorta
10	chr11:77597800-77633800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:77597800-77644200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:77597800-77644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:77597800-77669800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:77597800-77671000	Weak transcription	Fetal Brain Male	brain
15	chr11:77597800-77678200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:77597800-77690000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:77597800-77690000	Weak transcription	Esophagus	oesophagus
18	chr11:77597800-77690000	Weak transcription	Gastric	stomach
19	chr11:77601800-77629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:77602000-77640600	Weak transcription	K562	blood
21	chr11:77602600-77644200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:77602800-77690000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:77603000-77637400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:77603200-77650200	Weak transcription	Fetal Brain Female	brain
25	chr11:77604800-77644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:77612600-77637000	Weak transcription	Brain Anterior Caudate	brain
27	chr11:77614600-77629200	Weak transcription	Lung	lung
28	chr11:77614800-77638800	Weak transcription	Brain Angular Gyrus	brain
29	chr11:77614800-77700200	Weak transcription	Psoas Muscle	Psoas
30	chr11:77615000-77644200	Weak transcription	Spleen	Spleen
31	chr11:77615000-77656400	Weak transcription	Right Ventricle	heart
32	chr11:77615200-77637400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:77618200-77668200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:77618400-77629000	Weak transcription	Left Ventricle	heart
35	chr11:77618800-77625600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:77618800-77625600	Weak transcription	Brain Substantia Nigra	brain
37	chr11:77618800-77627400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:77618800-77629000	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:77618800-77635000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:77618800-77637200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:77618800-77644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:77619000-77625400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:77619000-77625600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:77619000-77626800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:77619000-77627400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:77619000-77627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:77619000-77627600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:77619000-77628200	Weak transcription	Fetal Thymus	thymus
49	chr11:77619000-77636600	Weak transcription	Placenta	Placenta
50	chr11:77619000-77667000	Weak transcription	Fetal Kidney	kidney

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