Variant report

Variant	rs540804371
Chromosome Location	chr11:71934188-71934189
allele	C/G
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	CBX3	chr11:71934087-71934776	K562	blood:	n/a	n/a
7	MAX	chr11:71933875-71936049	A549	lung:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
8	POLR2A	chr11:71934090-71936219	ProgFib	skin:	n/a	n/a
9	ZNF143	chr11:71934188-71934779	Hela-S3	cervix:	n/a	n/a
10	ZBTB7A	chr11:71934164-71936589	ECC-1	luminal epithelium:	n/a	chr11:71935345-71935353 chr11:71934980-71934989
11	PAX5	chr11:71933987-71934626	GM12878	blood:	n/a	n/a
12	GTF2F1	chr11:71933945-71934552	Hela-S3	cervix:	n/a	n/a
13	JUN	chr11:71934064-71934721	K562	blood:	n/a	n/a
14	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
15	HDAC2	chr11:71933981-71935406	MCF-7	breast:	n/a	chr11:71935114-71935133
16	POLR2A	chr11:71933993-71934855	PANC-1	pancreas:	n/a	n/a
17	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
18	FOXA1	chr11:71933981-71934662	T-47D	breast:	n/a	n/a
19	CHD2	chr11:71933847-71936905	Hela-S3	cervix:	n/a	chr11:71934835-71934845 chr11:71934840-71934850 chr11:71934293-71934300
20	ELF1	chr11:71934121-71934870	K562	blood:	n/a	chr11:71934520-71934532 chr11:71934519-71934528 chr11:71934554-71934566
21	NRF1	chr11:71933869-71934668	GM12878	blood:	n/a	n/a
22	TAF1	chr11:71933936-71934594	GM12878	blood:	n/a	n/a
23	IKZF1	chr11:71934095-71934368	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr11:71933993-71935656	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr11:71934004-71934859	HCT-116	colon:	n/a	n/a
26	MAZ	chr11:71934099-71936967	Hela-S3	cervix:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
27	MXI1	chr11:71933802-71934826	Hela-S3	cervix:	n/a	n/a
28	FOXA1	chr11:71934002-71934355	HepG2	liver:	n/a	n/a
29	JUND	chr11:71933523-71935397	K562	blood:	n/a	chr11:71934838-71934847
30	TEAD4	chr11:71934111-71935007	ECC-1	luminal epithelium:	n/a	n/a
31	CREB1	chr11:71933949-71935375	A549	lung:	n/a	n/a
32	PML	chr11:71933926-71935211	K562	blood:	n/a	n/a
33	CHD1	chr11:71933897-71935936	GM12878	blood:	n/a	chr11:71934835-71934845 chr11:71934840-71934850 chr11:71934293-71934300
34	GABPA	chr11:71933861-71934815	MCF-7	breast:	n/a	n/a
35	TAF1	chr11:71934086-71935356	K562	blood:	n/a	n/a
36	CTCF	chr11:71934126-71934668	K562	blood:	n/a	chr11:71934306-71934316 chr11:71934439-71934452
37	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
38	RCOR1	chr11:71934124-71934437	HepG2	liver:	n/a	n/a
39	MXI1	chr11:71934096-71935098	HepG2	liver:	n/a	n/a
40	PAX5	chr11:71934157-71935268	GM12892	blood:	n/a	n/a
41	EP300	chr11:71934152-71934578	SK-N-SH_RA	brain:	n/a	chr11:71934439-71934455
42	POLR2A	chr11:71933958-71934867	HCT-116	colon:	n/a	n/a
43	CTCF	chr11:71934180-71934330	HUVEC	blood vessel:	n/a	chr11:71934306-71934316
44	POLR2A	chr11:71933746-71937002	GM18526	blood:	n/a	n/a
45	BACH1	chr11:71933856-71934677	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPD	chr11:71934027-71934459	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:71933993-71934267	GM12891	blood:	n/a	n/a
48	NFIC	chr11:71933877-71934743	GM12878	blood:	n/a	n/a
49	MAZ	chr11:71933467-71937004	K562	blood:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
50	TCF7L2	chr11:71934111-71935512	HCT-116	colon:	n/a	n/a

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

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000137331	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000256007	Chromatin interaction
ENSG00000228286	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000165457	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000110195	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000162129	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71932400-71934200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:71932800-71934200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:71933200-71934200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:71933200-71934200	Flanking Active TSS	Hela-S3	cervix
5	chr11:71933200-71934400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:71933400-71934200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:71933400-71934200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr11:71933400-71934200	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr11:71933400-71934200	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr11:71933400-71934200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr11:71933600-71934200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:71933600-71934200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:71933600-71934200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:71933600-71934200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:71933600-71934200	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr11:71933600-71934200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr11:71933600-71934200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:71933600-71934200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr11:71933600-71934200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:71933600-71934200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:71933600-71934200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:71933600-71934200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr11:71933600-71934200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:71933600-71934200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:71933600-71934200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr11:71933600-71934200	Flanking Active TSS	Liver	Liver
27	chr11:71933600-71934200	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr11:71933600-71934200	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr11:71933600-71934200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr11:71933600-71934200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:71933600-71934200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:71933600-71934200	Flanking Active TSS	Thymus	Thymus
33	chr11:71933600-71934200	Flanking Active TSS	HSMM	muscle
34	chr11:71933600-71934200	Flanking Active TSS	NHEK	skin
35	chr11:71933600-71934400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:71933600-71935200	Active TSS	Fetal Brain Female	brain
37	chr11:71933600-71936800	Active TSS	Aorta	Aorta
38	chr11:71933800-71934200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
39	chr11:71933800-71934200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:71933800-71934200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:71933800-71934200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:71933800-71934200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:71933800-71934200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:71933800-71934200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:71933800-71934200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:71933800-71934200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr11:71933800-71934200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr11:71933800-71934200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:71933800-71934200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:71933800-71934200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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