Variant report

Variant	rs60795063
Chromosome Location	chr11:71752434-71752435
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	TAF1	chr11:71751621-71752708	MCF-7	breast:	n/a	n/a
2	EP300	chr11:71751583-71753152	T-47D	breast:	n/a	chr11:71751796-71751809 chr11:71752363-71752372
3	FOSL2	chr11:71751473-71752552	A549	lung:	n/a	n/a
4	CHD2	chr11:71751750-71753251	GM12878	blood:	n/a	chr11:71751791-71751798
5	SP1	chr11:71751529-71753403	HCT-116	colon:	n/a	chr11:71752069-71752080 chr11:71752265-71752277 chr11:71751923-71751935 chr11:71752266-71752276 chr11:71751925-71751934 chr11:71752905-71752917 chr11:71752267-71752276 chr11:71752266-71752275 chr11:71752906-71752920 chr11:71752266-71752276 chr11:71753069-71753078 chr11:71752905-71752917 chr11:71751924-71751934 chr11:71752276-71752290 chr11:71752265-71752277 chr11:71751923-71751935
6	POLR2A	chr11:71751499-71752450	SK-N-MC	brain:	n/a	n/a
7	MXI1	chr11:71751539-71752509	HepG2	liver:	n/a	n/a
8	HEY1	chr11:71751558-71753140	HepG2	liver:	n/a	n/a
9	TCF12	chr11:71751510-71752521	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:71751908-71752570	HepG2	liver:	n/a	n/a
11	EP300	chr11:71751634-71752729	SK-N-SH_RA	brain:	n/a	chr11:71751796-71751809 chr11:71752363-71752372
12	BACH1	chr11:71751830-71752540	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYBL2	chr11:71751679-71752574	HepG2	liver:	n/a	n/a
14	EP300	chr11:71751791-71752550	K562	blood:	n/a	chr11:71751796-71751809 chr11:71752363-71752372
15	EP300	chr11:71751621-71753407	GM12878	blood:	n/a	chr11:71751796-71751809 chr11:71752363-71752372
16	MXI1	chr11:71748458-71753885	SK-N-SH	brain:	n/a	n/a
17	RUNX3	chr11:71751472-71753129	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:71752011-71752509	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:71751344-71753389	SK-N-MC	brain:	n/a	n/a
20	FOXA1	chr11:71751552-71752607	T-47D	breast:	n/a	chr11:71752451-71752463
21	MAZ	chr11:71751704-71752759	HepG2	liver:	n/a	chr11:71752280-71752290 chr11:71752074-71752084
22	YY1	chr11:71751620-71753470	SK-N-SH	brain:	n/a	chr11:71752363-71752372 chr11:71752913-71752922
23	NFIC	chr11:71751444-71753322	SK-N-SH	brain:	n/a	chr11:71752161-71752178
24	CREB1	chr11:71751689-71752463	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr11:71751449-71752571	GM12878	blood:	n/a	chr11:71751791-71751798
26	MAX	chr11:71751541-71753244	SK-N-SH	brain:	n/a	chr11:71752280-71752290 chr11:71752074-71752084
27	YY1	chr11:71751641-71753326	SK-N-SH_RA	brain:	n/a	chr11:71752363-71752372 chr11:71752913-71752922
28	NFIC	chr11:71751665-71752453	HepG2	liver:	n/a	chr11:71752161-71752178
29	POLR2A	chr11:71750809-71753110	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:71751555-71753231	GM19193	blood:	n/a	n/a
31	POLR2A	chr11:71751283-71753289	GM12878	blood:	n/a	n/a
32	SIN3AK20	chr11:71751476-71753239	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:71752066-71753215	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:71751578-71753280	GM12891	blood:	n/a	n/a
35	NFIC	chr11:71751586-71752510	SK-N-SH	brain:	n/a	chr11:71752161-71752178
36	POLR2A	chr11:71751722-71752669	PANC-1	pancreas:	n/a	n/a
37	GATA3	chr11:71751588-71753143	T-47D	breast:	n/a	chr11:71751595-71751607 chr11:71751894-71751904
38	RCOR1	chr11:71751641-71752464	K562	blood:	n/a	n/a
39	POLR2A	chr11:71751528-71753187	GM18505	blood:	n/a	n/a
40	MAX	chr11:71751318-71753252	MCF-7	breast:	n/a	chr11:71752280-71752290 chr11:71752074-71752084
41	KAP1	chr11:71751732-71753372	HEK293	kidney:	n/a	n/a
42	POLR2A	chr11:71751410-71753305	U87	brain:	n/a	n/a
43	POLR2A	chr11:71752281-71752472	A549	lung:	n/a	n/a
44	SP1	chr11:71751654-71752438	H1-hESC	embryonic stem cell:	n/a	chr11:71752069-71752080 chr11:71752265-71752277 chr11:71751923-71751935 chr11:71752266-71752276 chr11:71751925-71751934 chr11:71752267-71752276 chr11:71752266-71752275 chr11:71752266-71752276 chr11:71751924-71751934 chr11:71752276-71752290 chr11:71752265-71752277 chr11:71751923-71751935
45	SIN3AK20	chr11:71752351-71752771	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr11:71751099-71753250	HUVEC	blood vessel:	n/a	n/a
47	CREB1	chr11:71751347-71752679	HepG2	liver:	n/a	n/a
48	TCF12	chr11:71751078-71753287	A549	lung:	n/a	n/a
49	NFIC	chr11:71751588-71753342	ECC-1	luminal epithelium:	n/a	chr11:71752161-71752178
50	REST	chr11:71750289-71753776	H1-neurons	neurons:	n/a	chr11:71752906-71752919 chr11:71750381-71750399 chr11:71752969-71752978 chr11:71750429-71750437 chr11:71752897-71752910

No.	Distal block	Cell Line	Cell type
1	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
2	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
3	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
4	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
5	chr11:71751619..71754177-chr11:71813642..71816501,2	K562	blood:
6	chr11:71750300..71753281-chr16:70322027..70323675,2	MCF-7	breast:
7	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
8	chr11:71749038..71754852-chr11:71933473..71937860,9	MCF-7	breast:
9	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
10	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
11	chr11:71750373..71752525-chr11:71933775..71937280,4	MCF-7	breast:
12	chr11:71751168..71753291-chr11:72144647..72146804,2	MCF-7	breast:

Variant related genes	Relation type
NUMA1	TF binding region
ENSG00000137497	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000184154	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55985525	0.87[AFR][1000 genomes]
rs58116522	0.87[AFR][1000 genomes]
rs60139676	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking 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	55 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	chr11:71749000-71753200	Active TSS	Ovary	ovary
2	chr11:71749400-71753200	Active TSS	Fetal Kidney	kidney
3	chr11:71749400-71753400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:71749600-71753200	Active TSS	Colon Smooth Muscle	Colon
5	chr11:71749600-71753400	Active TSS	Aorta	Aorta
6	chr11:71749800-71753600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:71750000-71754000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:71750200-71753200	Active TSS	Gastric	stomach
9	chr11:71750400-71753200	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr11:71750600-71752600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:71750800-71752800	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr11:71750800-71753000	Active TSS	Small Intestine	intestine
13	chr11:71750800-71753200	Active TSS	Brain Germinal Matrix	brain
14	chr11:71751000-71752600	Active TSS	Fetal Muscle Trunk	muscle
15	chr11:71751000-71753000	Active TSS	Fetal Intestine Large	intestine
16	chr11:71751000-71753000	Active TSS	Lung	lung
17	chr11:71751000-71753200	Active TSS	Right Atrium	heart
18	chr11:71751200-71752600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:71751200-71752600	Active TSS	Fetal Lung	lung
20	chr11:71751200-71752600	Active TSS	Stomach Mucosa	stomach
21	chr11:71751200-71753000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:71751200-71753000	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr11:71751200-71753000	Active TSS	Brain Hippocampus Middle	brain
24	chr11:71751200-71753000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr11:71751200-71753000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:71751200-71753000	Active TSS	Fetal Stomach	stomach
27	chr11:71751200-71753000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr11:71751200-71753000	Active TSS	Rectal Smooth Muscle	rectum
29	chr11:71751200-71753000	Active TSS	HSMMtube	muscle
30	chr11:71751200-71753200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr11:71751200-71753200	Active TSS	Brain Angular Gyrus	brain
32	chr11:71751200-71753200	Active TSS	Thymus	Thymus
33	chr11:71751200-71753400	Active TSS	Left Ventricle	heart
34	chr11:71751400-71752600	Active TSS	Stomach Smooth Muscle	stomach
35	chr11:71751400-71752800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:71751400-71753000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr11:71751400-71753000	Active TSS	Primary T cells from cord blood	blood
38	chr11:71751400-71753000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:71751400-71753000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr11:71751400-71753000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:71751400-71753000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:71751400-71753000	Active TSS	Brain Cingulate Gyrus	brain
43	chr11:71751400-71753000	Active TSS	Brain Substantia Nigra	brain
44	chr11:71751400-71753000	Active TSS	Esophagus	oesophagus
45	chr11:71751400-71753000	Active TSS	Spleen	Spleen
46	chr11:71751400-71753000	Active TSS	A549	lung
47	chr11:71751400-71753200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:71751400-71753200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:71751400-71753200	Active TSS	Brain Anterior Caudate	brain
50	chr11:71751400-71753200	Active TSS	Duodenum Smooth Muscle	Duodenum

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