Variant report

Variant	rs78176749
Chromosome Location	chr11:71934447-71934448
allele	G/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	NR2F2	chr11:71933964-71935256	MCF-7	breast:	n/a	n/a
2	RAD21	chr11:71934119-71934575	SK-N-SH_RA	brain:	n/a	chr11:71934253-71934272 chr11:71934307-71934319 chr11:71934307-71934317
3	TAF1	chr11:71934138-71934800	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:71933601-71936308	K562	blood:	n/a	n/a
5	POLR2A	chr11:71934156-71936944	MCF-7	breast:	n/a	n/a
6	CTCF	chr11:71934400-71934550	SK-N-SH_RA	brain:	n/a	chr11:71934439-71934452
7	CBX3	chr11:71934087-71934776	K562	blood:	n/a	n/a
8	MAX	chr11:71933875-71936049	A549	lung:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
9	POLR2A	chr11:71934385-71934598	A549	lung:	n/a	n/a
10	POLR2A	chr11:71934090-71936219	ProgFib	skin:	n/a	n/a
11	TAF1	chr11:71934347-71934625	Hela-S3	cervix:	n/a	n/a
12	ZNF143	chr11:71934188-71934779	Hela-S3	cervix:	n/a	n/a
13	ZBTB7A	chr11:71934164-71936589	ECC-1	luminal epithelium:	n/a	chr11:71935345-71935353 chr11:71934980-71934989
14	PAX5	chr11:71933987-71934626	GM12878	blood:	n/a	n/a
15	GTF2F1	chr11:71933945-71934552	Hela-S3	cervix:	n/a	n/a
16	JUN	chr11:71934064-71934721	K562	blood:	n/a	n/a
17	ATF2	chr11:71934385-71934745	H1-hESC	embryonic stem cell:	n/a	n/a
18	SRF	chr11:71934098-71934577	ECC-1	luminal epithelium:	n/a	chr11:71934378-71934388 chr11:71934391-71934409 chr11:71934317-71934327 chr11:71934395-71934406 chr11:71934390-71934404 chr11:71934361-71934378 chr11:71934388-71934405 chr11:71934390-71934408
19	HDAC2	chr11:71933981-71935406	MCF-7	breast:	n/a	chr11:71935114-71935133
20	SRF	chr11:71934244-71934556	HepG2	liver:	n/a	chr11:71934378-71934388 chr11:71934391-71934409 chr11:71934317-71934327 chr11:71934395-71934406 chr11:71934390-71934404 chr11:71934361-71934378 chr11:71934388-71934405 chr11:71934390-71934408
21	POLR2A	chr11:71933993-71934855	PANC-1	pancreas:	n/a	n/a
22	YY1	chr11:71934108-71935265	K562	blood:	n/a	chr11:71934313-71934322 chr11:71934557-71934568 chr11:71934419-71934430 chr11:71934559-71934568 chr11:71934267-71934276 chr11:71935019-71935030
23	FOXA1	chr11:71933981-71934662	T-47D	breast:	n/a	n/a
24	CHD2	chr11:71933847-71936905	Hela-S3	cervix:	n/a	chr11:71934835-71934845 chr11:71934840-71934850 chr11:71934293-71934300
25	TAF1	chr11:71934215-71935427	K562	blood:	n/a	n/a
26	ELF1	chr11:71934121-71934870	K562	blood:	n/a	chr11:71934520-71934532 chr11:71934519-71934528 chr11:71934554-71934566
27	NRF1	chr11:71933869-71934668	GM12878	blood:	n/a	n/a
28	TAF1	chr11:71933936-71934594	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr11:71933993-71935656	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr11:71934004-71934859	HCT-116	colon:	n/a	n/a
31	MAZ	chr11:71934099-71936967	Hela-S3	cervix:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
32	MXI1	chr11:71933802-71934826	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:71934320-71934470	GM06990	blood:	n/a	chr11:71934439-71934452
34	JUND	chr11:71933523-71935397	K562	blood:	n/a	chr11:71934838-71934847
35	TEAD4	chr11:71934111-71935007	ECC-1	luminal epithelium:	n/a	n/a
36	CREB1	chr11:71933949-71935375	A549	lung:	n/a	n/a
37	SRF	chr11:71934243-71934572	GM12878	blood:	n/a	chr11:71934378-71934388 chr11:71934391-71934409 chr11:71934317-71934327 chr11:71934395-71934406 chr11:71934390-71934404 chr11:71934361-71934378 chr11:71934388-71934405 chr11:71934390-71934408
38	PML	chr11:71933926-71935211	K562	blood:	n/a	n/a
39	CHD1	chr11:71933897-71935936	GM12878	blood:	n/a	chr11:71934835-71934845 chr11:71934840-71934850 chr11:71934293-71934300
40	GABPA	chr11:71933861-71934815	MCF-7	breast:	n/a	n/a
41	TAF1	chr11:71934086-71935356	K562	blood:	n/a	n/a
42	CTCF	chr11:71934126-71934668	K562	blood:	n/a	chr11:71934306-71934316 chr11:71934439-71934452
43	SRF	chr11:71933998-71934766	MCF-7	breast:	n/a	chr11:71934378-71934388 chr11:71934391-71934409 chr11:71934317-71934327 chr11:71934395-71934406 chr11:71934390-71934404 chr11:71934361-71934378 chr11:71934388-71934405 chr11:71934390-71934408
44	MXI1	chr11:71934096-71935098	HepG2	liver:	n/a	n/a
45	PAX5	chr11:71934157-71935268	GM12892	blood:	n/a	n/a
46	EP300	chr11:71934152-71934578	SK-N-SH_RA	brain:	n/a	chr11:71934439-71934455
47	CTCF	chr11:71934420-71934570	HepG2	liver:	n/a	chr11:71934439-71934452
48	POLR2A	chr11:71933958-71934867	HCT-116	colon:	n/a	n/a
49	TCF12	chr11:71934424-71934854	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:71933746-71937002	GM18526	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71748920..71751712-chr11:71934433..71936381,2	K562	blood:
2	chr11:71794597..71796676-chr11:71933862..71937757,3	K562	blood:
3	chr11:71901535..71906562-chr11:71933469..71937383,8	MCF-7	breast:
4	chr11:71932379..71935171-chr11:72141438..72143643,2	K562	blood:
5	chr11:71928745..71931355-chr11:71933643..71936077,2	MCF-7	breast:
6	chr11:71823487..71825907-chr11:71932451..71935590,3	K562	blood:
7	chr11:71903106..71905888-chr11:71932566..71934811,2	K562	blood:
8	chr11:71820588..71822402-chr11:71934430..71936040,2	K562	blood:
9	chr11:71933506..71936425-chr8:101962971..101964656,2	MCF-7	breast:
10	chr11:71899963..71900919-chr11:71934256..71934793,2	Hela-S3	cervix:
11	chr11:71790877..71793243-chr11:71934127..71937254,3	K562	blood:
12	chr11:71933813..71936010-chr11:72394188..72397078,2	MCF-7	breast:
13	chr11:71926160..71927705-chr11:71931885..71934510,2	MCF-7	breast:
14	chr11:71933747..71936558-chr11:71962323..71967146,4	K562	blood:
15	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
16	chr11:71812032..71815862-chr11:71933743..71937376,6	MCF-7	breast:
17	chr11:71749038..71754852-chr11:71933473..71937860,9	MCF-7	breast:
18	chr11:71933144..71936187-chr11:72142812..72145474,4	MCF-7	breast:
19	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
20	chr11:71933976..71935544-chr6:30710899..30712644,2	MCF-7	breast:
21	chr11:71750373..71752525-chr11:71933775..71937280,4	MCF-7	breast:
22	chr11:71812576..71816251-chr11:71934138..71937267,4	MCF-7	breast:
23	chr11:71705470..71708103-chr11:71933163..71935736,2	K562	blood:

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000165457	Chromatin interaction
ENSG00000228286	Chromatin interaction
ENSG00000110195	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000256007	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000137331	Chromatin interaction

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

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	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	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3356829	chr11:71933329-71936177	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
5	esv3333139	chr11:71933354-71937252	Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71933600-71935200	Active TSS	Fetal Brain Female	brain
2	chr11:71933600-71936800	Active TSS	Aorta	Aorta
3	chr11:71933800-71935000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:71933800-71935000	Active TSS	Brain Germinal Matrix	brain
5	chr11:71933800-71936400	Active TSS	Esophagus	oesophagus
6	chr11:71933800-71936400	Active TSS	Gastric	stomach
7	chr11:71933800-71936400	Active TSS	Ovary	ovary
8	chr11:71933800-71936400	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr11:71933800-71936400	Active TSS	Small Intestine	intestine
10	chr11:71933800-71936400	Active TSS	A549	lung
11	chr11:71933800-71936800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr11:71933800-71937000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr11:71933800-71937200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:71933800-71937200	Active TSS	Fetal Kidney	kidney
15	chr11:71934000-71935000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:71934000-71935000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:71934000-71936200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:71934000-71936200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:71934000-71936200	Active TSS	Brain Cingulate Gyrus	brain
20	chr11:71934000-71936200	Active TSS	Colonic Mucosa	Colon
21	chr11:71934000-71936200	Active TSS	Duodenum Mucosa	Duodenum
22	chr11:71934000-71936200	Active TSS	Pancreas	Pancrea
23	chr11:71934000-71936200	Active TSS	Placenta Amnion	Placenta Amnion
24	chr11:71934000-71936200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr11:71934000-71936200	Active TSS	Right Ventricle	heart
26	chr11:71934000-71936400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:71934000-71936400	Active TSS	Primary T cells from cord blood	blood
28	chr11:71934000-71936400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:71934000-71936400	Active TSS	Brain Angular Gyrus	brain
30	chr11:71934000-71936400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:71934000-71936400	Active TSS	Colon Smooth Muscle	Colon
32	chr11:71934000-71936400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:71934000-71936400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:71934000-71936400	Active TSS	Fetal Intestine Large	intestine
35	chr11:71934000-71936400	Active TSS	Fetal Intestine Small	intestine
36	chr11:71934000-71936400	Active TSS	Fetal Stomach	stomach
37	chr11:71934000-71936400	Active TSS	Left Ventricle	heart
38	chr11:71934000-71936400	Active TSS	Psoas Muscle	Psoas
39	chr11:71934000-71936400	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:71934000-71936400	Active TSS	Right Atrium	heart
41	chr11:71934000-71936400	Active TSS	Spleen	Spleen
42	chr11:71934000-71936400	Active TSS	Dnd41	blood
43	chr11:71934000-71936400	Active TSS	K562	blood
44	chr11:71934000-71936400	Active TSS	Osteobl	bone
45	chr11:71934000-71936600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:71934000-71936600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:71934000-71936600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:71934000-71936600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:71934000-71936600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:71934000-71936600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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