Variant report

Variant	rs575600716
Chromosome Location	chr11:65405580-65405581
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	MTA3	chr11:65405158-65406719	GM12878	blood:	n/a	n/a
2	CTCF	chr11:65405440-65405590	GM12801	blood:	n/a	n/a
3	ETS1	chr11:65405307-65405801	A549	lung:	n/a	chr11:65405490-65405501 chr11:65405383-65405392
4	REST	chr11:65405216-65405630	PFSK-1	brain:	n/a	chr11:65405448-65405462 chr11:65405442-65405462 chr11:65405349-65405359
5	EBF1	chr11:65405412-65406330	GM12878	blood:	n/a	chr11:65406115-65406126
6	ZNF143	chr11:65405256-65406124	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:65405137-65406416	HUVEC	blood vessel:	n/a	n/a
8	TCF12	chr11:65405245-65405932	A549	lung:	n/a	chr11:65405472-65405480
9	TAF1	chr11:65405298-65405784	K562	blood:	n/a	n/a
10	MXI1	chr11:65405363-65406495	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:65405185-65406448	HUVEC	blood vessel:	n/a	n/a
12	PML	chr11:65405433-65405982	MCF-7	breast:	n/a	n/a
13	CHD2	chr11:65405326-65406392	GM12878	blood:	n/a	n/a
14	ATF2	chr11:65405265-65406275	GM12878	blood:	n/a	n/a
15	RCOR1	chr11:65405210-65405676	Hela-S3	cervix:	n/a	n/a
16	EGR1	chr11:65405428-65405721	K562	blood:	n/a	n/a
17	POLR2A	chr11:65405255-65406578	GM12878	blood:	n/a	n/a
18	CBX3	chr11:65405180-65406426	K562	blood:	n/a	n/a
19	MXI1	chr11:65405226-65405740	HepG2	liver:	n/a	n/a
20	SP1	chr11:65405159-65406160	H1-hESC	embryonic stem cell:	n/a	chr11:65405938-65405947 chr11:65406148-65406160 chr11:65406145-65406159 chr11:65406149-65406159 chr11:65406150-65406159 chr11:65405937-65405951 chr11:65405936-65405948 chr11:65406150-65406159 chr11:65406148-65406160 chr11:65405936-65405948 chr11:65406149-65406159 chr11:65406149-65406158
21	POLR2A	chr11:65405292-65405834	H1-neurons	neurons:	n/a	n/a
22	MAZ	chr11:65405375-65406510	GM12878	blood:	n/a	chr11:65406393-65406403 chr11:65406147-65406157
23	EGR1	chr11:65405287-65405726	K562	blood:	n/a	n/a
24	POLR2A	chr11:65404916-65406624	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr11:65405192-65406035	ECC-1	luminal epithelium:	n/a	n/a
26	MYC	chr11:65405219-65406231	K562	blood:	n/a	chr11:65406147-65406157
27	NR2F2	chr11:65404983-65406269	K562	blood:	n/a	n/a
28	PML	chr11:65405478-65405653	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:65405564-65406179	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr11:65405258-65405710	K562	blood:	n/a	chr11:65405448-65405462 chr11:65405442-65405462 chr11:65405349-65405359
31	ZNF143	chr11:65405231-65406231	Hela-S3	cervix:	n/a	n/a
32	ZBTB7A	chr11:65405262-65406454	K562	blood:	n/a	chr11:65406053-65406062
33	ZKSCAN1	chr11:65405310-65405854	Hela-S3	cervix:	n/a	n/a
34	MAX	chr11:65404960-65406338	K562	blood:	n/a	chr11:65406147-65406157
35	UBTF	chr11:65405232-65405697	K562	blood:	n/a	n/a
36	TEAD4	chr11:65405238-65405632	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr11:65405160-65405594	A549	lung:	n/a	chr11:65405339-65405352 chr11:65405341-65405349
38	REST	chr11:65405393-65405719	PANC-1	pancreas:	n/a	chr11:65405448-65405462 chr11:65405442-65405462
39	TAF1	chr11:65405282-65405655	Hela-S3	cervix:	n/a	n/a
40	REST	chr11:65405271-65405608	HepG2	liver:	n/a	chr11:65405448-65405462 chr11:65405442-65405462 chr11:65405349-65405359
41	POLR2A	chr11:65405394-65406536	GM12891	blood:	n/a	n/a
42	PML	chr11:65405205-65406095	K562	blood:	n/a	n/a
43	MYC	chr11:65405228-65405936	NB4	blood:	n/a	n/a
44	PBX3	chr11:65405303-65406101	A549	lung:	n/a	n/a
45	TAF1	chr11:65405241-65405580	H1-hESC	embryonic stem cell:	n/a	n/a
46	RELA	chr11:65405279-65406307	GM19099	blood:	n/a	n/a
47	POLR2A	chr11:65405245-65405813	K562	blood:	n/a	n/a
48	CHD2	chr11:65405308-65406199	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:65405255-65405798	HepG2	liver:	n/a	n/a
50	ZNF143	chr11:65405285-65405648	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65405500..65407998-chr11:65624581..65626384,2	K562	blood:
2	chr11:65380696..65385200-chr11:65403578..65408941,10	MCF-7	breast:
3	chr11:65265497..65267860-chr11:65403489..65405848,3	K562	blood:
4	chr11:65403669..65406096-chr11:65480097..65481780,2	MCF-7	breast:
5	chr11:65342220..65345077-chr11:65403229..65406787,3	K562	blood:
6	chr11:65401684..65407000-chr11:65623220..65627704,6	K562	blood:
7	chr11:65404733..65406830-chr11:65478478..65481431,2	K562	blood:
8	chr11:65336849..65339116-chr11:65404161..65406035,2	K562	blood:

Variant related genes	Relation type
SIPA1	TF binding region
ENSG00000172757	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
4	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
6	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
8	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
9	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
12	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
14	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
15	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
16	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats 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 miRNA target site	98 gene(s)	inside rSNPs	diseases
17	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
18	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
19	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
20	esv1831135	chr11:65387352-65420872	Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	43 gene(s)	inside rSNPs	diseases
21	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv897749	chr11:65401748-65420760	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	39 gene(s)	inside rSNPs	diseases
23	nsv897750	chr11:65401748-65421476	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
24	nsv897751	chr11:65401748-65425167	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
25	nsv897752	chr11:65405300-65421476	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
26	nsv897753	chr11:65405300-65422693	Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
27	nsv897754	chr11:65405300-65436888	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
28	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65400800-65406600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65403000-65405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65404600-65405600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:65404600-65405600	Weak transcription	Ovary	ovary
5	chr11:65404600-65405600	Enhancers	Stomach Mucosa	stomach
6	chr11:65404600-65405600	Enhancers	HUVEC	blood vessel
7	chr11:65404800-65405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:65404800-65405600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:65404800-65405600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:65404800-65405600	Enhancers	NH-A	brain
11	chr11:65405000-65405600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:65405000-65405600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:65405000-65405600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:65405000-65405600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr11:65405000-65405600	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr11:65405000-65406000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
17	chr11:65405000-65406000	Active TSS	Gastric	stomach
18	chr11:65405000-65406400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:65405000-65406400	Enhancers	Fetal Brain Male	brain
20	chr11:65405000-65406400	Flanking Active TSS	Pancreas	Pancrea
21	chr11:65405000-65406600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:65405000-65406600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:65405000-65406600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr11:65405200-65405600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:65405200-65405600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr11:65405200-65405600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:65405200-65405600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:65405200-65405600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr11:65405200-65405600	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr11:65405200-65405600	Flanking Active TSS	Fetal Thymus	thymus
31	chr11:65405200-65405600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:65405200-65405600	Enhancers	NHDF-Ad	bronchial
33	chr11:65405200-65405800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:65405200-65405800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:65405200-65406000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:65405200-65406000	Active TSS	Esophagus	oesophagus
37	chr11:65405200-65406200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:65405200-65406200	Flanking Active TSS	Colonic Mucosa	Colon
39	chr11:65405200-65406400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
40	chr11:65405200-65406400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:65405200-65406400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:65405200-65406600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr11:65405200-65406600	Flanking Active TSS	Liver	Liver
44	chr11:65405200-65406600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:65405200-65406600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr11:65405200-65406600	Active TSS	HSMMtube	muscle
47	chr11:65405200-65406600	Flanking Active TSS	NHEK	skin
48	chr11:65405200-65406800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:65405200-65406800	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr11:65405200-65409600	Flanking Active TSS	Primary B cells from cord blood	blood

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