Variant report

Variant	rs72930958
Chromosome Location	chr11:65769042-65769043
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	GABPA	chr11:65768954-65770600	A549	lung:	n/a	chr11:65770260-65770269 chr11:65769951-65769958 chr11:65769005-65769016
2	POLR2A	chr11:65768894-65770645	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:65768720-65770765	K562	blood:	n/a	n/a
4	POLR2A	chr11:65768961-65771436	PANC-1	pancreas:	n/a	n/a
5	GABPA	chr11:65768954-65770733	MCF-7	breast:	n/a	chr11:65770260-65770269 chr11:65769951-65769958 chr11:65769005-65769016
6	POU2F2	chr11:65768984-65770174	GM12891	blood:	n/a	chr11:65769229-65769239 chr11:65769226-65769241 chr11:65769225-65769243 chr11:65769231-65769244 chr11:65769229-65769240 chr11:65769230-65769238 chr11:65769228-65769238 chr11:65769229-65769238 chr11:65769227-65769239 chr11:65769224-65769245 chr11:65769228-65769238 chr11:65769230-65769237
7	SIN3AK20	chr11:65768999-65770631	PANC-1	pancreas:	n/a	n/a
8	GABPA	chr11:65768962-65770642	SK-N-SH	brain:	n/a	chr11:65770260-65770269 chr11:65769951-65769958 chr11:65769005-65769016
9	POLR2A	chr11:65768990-65772628	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:65768991-65770472	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr11:65768998-65770558	GM12892	blood:	n/a	n/a
12	MXI1	chr11:65768500-65771007	SK-N-SH	brain:	n/a	chr11:65769021-65769036
13	PML	chr11:65768893-65770631	GM12878	blood:	n/a	n/a
14	IRF1	chr11:65768971-65770440	K562	blood:	n/a	chr11:65770025-65770034
15	HCFC1	chr11:65768883-65771260	Hela-S3	cervix:	n/a	n/a
16	MAX	chr11:65768956-65770381	SK-N-SH	brain:	n/a	n/a
17	STAT5A	chr11:65768914-65770601	GM12878	blood:	n/a	chr11:65769180-65769188 chr11:65769742-65769749 chr11:65770015-65770035 chr11:65769943-65769967 chr11:65770021-65770029 chr11:65770470-65770478
18	POLR2A	chr11:65768945-65770541	Hela-S3	cervix:	n/a	n/a
19	TAF1	chr11:65768982-65770555	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr11:65768995-65770647	HCT-116	colon:	n/a	n/a
21	SREBP1	chr11:65768865-65770759	GM12878	blood:	n/a	chr11:65769022-65769036
22	RUNX3	chr11:65768963-65770522	GM12878	blood:	n/a	n/a
23	MTA3	chr11:65768903-65770663	GM12878	blood:	n/a	n/a
24	MAX	chr11:65768893-65770714	HCT-116	colon:	n/a	n/a
25	SIN3A	chr11:65769013-65770594	H1-hESC	embryonic stem cell:	n/a	chr11:65770271-65770282 chr11:65770038-65770049
26	GABPA	chr11:65768879-65770724	MCF-7	breast:	n/a	chr11:65770260-65770269 chr11:65769951-65769958 chr11:65769005-65769016
27	POLR2A	chr11:65769041-65770534	SK-N-SH	brain:	n/a	n/a
28	MAZ	chr11:65768953-65770705	IMR90	lung:	n/a	n/a
29	HA-E2F1	chr11:65768784-65770609	MCF-7	breast:	n/a	chr11:65770260-65770269 chr11:65770004-65770016
30	POLR2A	chr11:65769003-65770744	HCT-116	colon:	n/a	n/a
31	POLR2A	chr11:65769029-65770183	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:65768963-65770601	GM12892	blood:	n/a	n/a
33	GABPA	chr11:65768965-65770664	SK-N-SH	brain:	n/a	chr11:65770260-65770269 chr11:65769951-65769958 chr11:65769005-65769016
34	POU2F2	chr11:65768967-65769990	GM12891	blood:	n/a	chr11:65769229-65769239 chr11:65769226-65769241 chr11:65769225-65769243 chr11:65769231-65769244 chr11:65769229-65769240 chr11:65769230-65769238 chr11:65769228-65769238 chr11:65769229-65769238 chr11:65769227-65769239 chr11:65769224-65769245 chr11:65769228-65769238 chr11:65769230-65769237
35	TEAD4	chr11:65768929-65770140	K562	blood:	n/a	chr11:65769908-65769917
36	MYC	chr11:65768978-65770562	A549	lung:	n/a	n/a
37	MXI1	chr11:65768510-65770637	IMR90	lung:	n/a	chr11:65769021-65769036
38	PML	chr11:65768954-65770179	K562	blood:	n/a	n/a
39	POU2F2	chr11:65768955-65770157	GM12878	blood:	n/a	chr11:65769229-65769239 chr11:65769226-65769241 chr11:65769225-65769243 chr11:65769231-65769244 chr11:65769229-65769240 chr11:65769230-65769238 chr11:65769228-65769238 chr11:65769229-65769238 chr11:65769227-65769239 chr11:65769224-65769245 chr11:65769228-65769238 chr11:65769230-65769237
40	GABPA	chr11:65768865-65770677	A549	lung:	n/a	chr11:65770260-65770269 chr11:65769951-65769958 chr11:65769005-65769016
41	POLR2A	chr11:65768988-65770164	GM12878	blood:	n/a	n/a
42	PML	chr11:65768918-65770127	K562	blood:	n/a	n/a
43	SIX5	chr11:65768992-65770239	A549	lung:	n/a	n/a
44	MAX	chr11:65768901-65770736	A549	lung:	n/a	n/a
45	REST	chr11:65769021-65770035	A549	lung:	n/a	n/a
46	POLR2A	chr11:65768859-65770573	SK-N-MC	brain:	n/a	n/a
47	REST	chr11:65768977-65770215	A549	lung:	n/a	n/a
48	REST	chr11:65769036-65770314	H1-neurons	neurons:	n/a	chr11:65770264-65770274
49	JUN	chr11:65768928-65770810	K562	blood:	n/a	chr11:65770266-65770275
50	ZNF384	chr11:65768893-65769176	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65629227..65631870-chr11:65766567..65769342,2	MCF-7	breast:
2	chr11:65745204..65747160-chr11:65768458..65770932,2	MCF-7	breast:
3	chr11:65636578..65639381-chr11:65766938..65769474,2	MCF-7	breast:
4	chr11:65727706..65730705-chr11:65767958..65771448,5	K562	blood:
5	chr11:65768250..65771590-chr11:65817294..65821421,6	K562	blood:
6	chr11:65768250..65771110-chr11:65819143..65821313,2	K562	blood:
7	chr11:65188857..65190458-chr11:65768140..65769977,2	K562	blood:
8	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
9	chr11:65767772..65771693-chr11:65812597..65815090,3	MCF-7	breast:
10	chr11:65626233..65629168-chr11:65768411..65771473,3	MCF-7	breast:
11	chr11:65767679..65771369-chr11:65818165..65822112,6	MCF-7	breast:
12	chr11:65766270..65769793-chr11:65817988..65822487,7	MCF-7	breast:
13	chr11:65768713..65771187-chr11:65815106..65817250,2	MCF-7	breast:
14	chr11:65485229..65488136-chr11:65767888..65770369,2	MCF-7	breast:
15	chr11:65727757..65730728-chr11:65768462..65771270,6	MCF-7	breast:
16	chr11:65624197..65625879-chr11:65767979..65770257,2	MCF-7	breast:
17	chr11:65380602..65383246-chr11:65768678..65771455,2	K562	blood:
18	chr11:65631727..65633927-chr11:65768782..65771616,2	MCF-7	breast:
19	chr11:65768123..65770687-chr11:65788351..65790253,5	MCF-7	breast:
20	chr11:65428607..65430796-chr11:65768393..65771088,2	K562	blood:
21	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:
22	chr11:65386057..65388791-chr11:65767890..65770632,2	K562	blood:

Variant related genes	Relation type
BANF1	TF binding region
EIF1AD	TF binding region
ENSG00000087365	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12574568	0.85[EUR][1000 genomes]
rs12576095	0.85[EUR][1000 genomes]
rs12577165	0.85[EUR][1000 genomes]
rs2276017	0.85[EUR][1000 genomes]
rs2277305	0.85[EUR][1000 genomes]
rs3825068	0.85[EUR][1000 genomes]
rs59156593	1.00[AMR][1000 genomes]
rs59768626	1.00[AMR][1000 genomes]
rs72926862	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72926898	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928826	1.00[AMR][1000 genomes]
rs72928851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928868	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72928884	0.85[EUR][1000 genomes]
rs72928892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928898	0.85[EUR][1000 genomes]
rs72928900	0.85[EUR][1000 genomes]
rs72930912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930914	0.85[EUR][1000 genomes]
rs72930933	0.85[EUR][1000 genomes]
rs72930942	0.85[EUR][1000 genomes]
rs72930945	0.81[EUR][1000 genomes]
rs72930951	0.85[EUR][1000 genomes]
rs72930952	0.85[EUR][1000 genomes]
rs72930956	0.85[EUR][1000 genomes]
rs72930964	0.85[EUR][1000 genomes]
rs72930967	0.85[EUR][1000 genomes]
rs72930974	0.85[EUR][1000 genomes]
rs72930976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930985	0.90[EUR][1000 genomes]
rs73496466	1.00[AMR][1000 genomes];0.89[EUR][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	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65768000-65769200	Active TSS	Brain Germinal Matrix	brain
2	chr11:65768000-65769200	Active TSS	Fetal Brain Female	brain
3	chr11:65768000-65770400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:65768000-65770400	Active TSS	Osteobl	bone
5	chr11:65768000-65770600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:65768000-65770600	Active TSS	Right Ventricle	heart
7	chr11:65768000-65770800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:65768000-65770800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:65768000-65770800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:65768000-65771200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:65768200-65769200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:65768200-65769200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:65768200-65770400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:65768200-65770400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:65768200-65770400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:65768200-65770400	Active TSS	Hela-S3	cervix
17	chr11:65768200-65770400	Active TSS	NH-A	brain
18	chr11:65768200-65770600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:65768200-65770600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:65768200-65770600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:65768200-65770600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:65768200-65770600	Active TSS	Muscle Satellite Cultured Cells	--
23	chr11:65768200-65770600	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:65768200-65770600	Active TSS	Dnd41	blood
25	chr11:65768200-65770600	Active TSS	GM12878-XiMat	blood
26	chr11:65768200-65770600	Active TSS	HMEC	breast
27	chr11:65768200-65770600	Active TSS	HSMM	muscle
28	chr11:65768200-65770600	Active TSS	K562	blood
29	chr11:65768200-65770800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:65768400-65770400	Active TSS	Fetal Intestine Large	intestine
31	chr11:65768400-65770600	Active TSS	NHLF	lung
32	chr11:65768400-65771000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:65768400-65771000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr11:65768400-65771200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:65768400-65771200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:65768600-65769200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr11:65768600-65769200	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr11:65768600-65769400	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr11:65768600-65769400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:65768600-65769400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr11:65768600-65769600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr11:65768600-65769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:65768600-65769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:65768600-65769600	Active TSS	Right Atrium	heart
45	chr11:65768600-65770200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:65768600-65770400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr11:65768600-65770400	Active TSS	Brain Hippocampus Middle	brain
48	chr11:65768600-65770400	Active TSS	Brain Substantia Nigra	brain
49	chr11:65768600-65770400	Active TSS	Colonic Mucosa	Colon
50	chr11:65768600-65770400	Active TSS	Duodenum Smooth Muscle	Duodenum

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