Variant report

Variant	rs12795582
Chromosome Location	chr11:66059610-66059611
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	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
2	SIN3AK20	chr11:66059172-66059716	PANC-1	pancreas:	n/a	n/a
3	ATF2	chr11:66059433-66059860	H1-hESC	embryonic stem cell:	n/a	chr11:66059805-66059819 chr11:66059807-66059818
4	CREB1	chr11:66059384-66059949	A549	lung:	n/a	chr11:66059671-66059684 chr11:66059806-66059819
5	POLR2A	chr11:66058781-66059682	H1-neurons	neurons:	n/a	n/a
6	JUND	chr11:66059499-66059849	HepG2	liver:	n/a	chr11:66059808-66059817 chr11:66059673-66059682 chr11:66059572-66059581
7	JUND	chr11:66059489-66059869	H1-hESC	embryonic stem cell:	n/a	chr11:66059808-66059817 chr11:66059673-66059682 chr11:66059572-66059581
8	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
9	SIN3A	chr11:66059450-66059943	H1-hESC	embryonic stem cell:	n/a	chr11:66059901-66059914 chr11:66059903-66059914 chr11:66059931-66059940
10	CREB1	chr11:66059343-66060115	H1-hESC	embryonic stem cell:	n/a	chr11:66059671-66059684 chr11:66059806-66059819
11	ZBTB7A	chr11:66059584-66059949	K562	blood:	n/a	n/a
12	ZBTB7A	chr11:66059608-66059770	HepG2	liver:	n/a	n/a
13	REST	chr11:66059029-66059857	H1-neurons	neurons:	n/a	chr11:66059419-66059432 chr11:66059287-66059300 chr11:66059358-66059371
14	ZBTB7A	chr11:66059534-66060339	ECC-1	luminal epithelium:	n/a	n/a
15	JUND	chr11:66059525-66059783	H1-hESC	embryonic stem cell:	n/a	chr11:66059673-66059682 chr11:66059572-66059581
16	ZBTB7A	chr11:66059388-66060267	ECC-1	luminal epithelium:	n/a	n/a
17	CREB1	chr11:66059472-66060012	H1-hESC	embryonic stem cell:	n/a	chr11:66059671-66059684 chr11:66059806-66059819

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66059599-66059649	RPTEC	kidney:	n/a
2	chr11:66059599-66059649	SAEC	small airway:	n/a
3	chr11:66059599-66059649	CMK	blood:	n/a
4	chr11:66059599-66059649	A549	lung:	n/a
5	chr11:66059599-66059649	Hela-S3	cervix:	n/a
6	chr11:66059599-66059649	HRE	kidney:	n/a
7	chr11:66059599-66059649	MCF10A-Er-Src	breast:	n/a
8	chr11:66059599-66059649	IMR90	lung:	fetal
9	chr11:66059599-66059649	LNCaP	prostate:	n/a
10	chr11:66059599-66059649	ECC-1	luminal epithelium:	n/a
11	chr11:66059599-66059649	HRCEpiC	kidney:	n/a
12	chr11:66059599-66059649	Hepatocyte	liver:	n/a
13	chr11:66059599-66059649	NHBE	bronchial:	n/a
14	chr11:66059599-66059649	GM19239	blood:	n/a
15	chr11:66059599-66059649	HIPEpiC	eye:	n/a
16	chr11:66059599-66059649	SK-N-SH_RA	brain:	n/a
17	chr11:66059599-66059649	Jurkat	blood:	n/a
18	chr11:66059599-66059649	HRPEpiC	eye:	n/a
19	chr11:66059599-66059649	HEK293	kidney:	embryo
20	chr11:66059599-66059649	NH-A	brain:	n/a
21	chr11:66059599-66059649	GM12891	blood:	n/a
22	chr11:66059599-66059649	NT2-D1	testis:	n/a
23	chr11:66059599-66059649	SK-N-MC	brain:	n/a
24	chr11:66059599-66059649	ProgFib	skin:	n/a
25	chr11:66059599-66059649	ovcar-3	ovarian:	n/a
26	chr11:66059599-66059649	Caco-2	colon:	n/a
27	chr11:66059599-66059649	T-47D	breast:	n/a
28	chr11:66059599-66059649	HL-60	blood:	n/a
29	chr11:66059599-66059649	HCT-116	colon:	n/a
30	chr11:66059599-66059649	GM12892	blood:	n/a
31	chr11:66059599-66059649	PANC-1	pancreas:	n/a
32	chr11:66059599-66059649	BJ	skin:	n/a
33	chr11:66059599-66059649	SK-N-SH	brain:	n/a
34	chr11:66059599-66059649	NHDF-neo	bronchial:	n/a
35	chr11:66059599-66059649	MCF-7	breast:	n/a
36	chr11:66059599-66059649	NB4	blood:	n/a
37	chr11:66059599-66059649	HMEC	breast:	n/a
38	chr11:66059599-66059649	AoSMC	blood vessel:	n/a
39	chr11:66059599-66059649	HEEpiC	esophagus:	n/a
40	chr11:66059599-66059649	HNPCEpiC	eye:	n/a
41	chr11:66059599-66059649	HCF	heart:	n/a
42	chr11:66059599-66059649	HAEpiC	amniotic membrane:	n/a
43	chr11:66059599-66059649	AG09319	gingival:	n/a
44	chr11:66059599-66059649	K562	blood:	n/a
45	chr11:66059599-66059649	H1-hESC	embryonic stem cell:	embryo
46	chr11:66059599-66059649	PrEC	prostate:	n/a
47	chr11:66059599-66059649	GM06990	blood:	n/a
48	chr11:66059599-66059649	AG10803	skin:	n/a
49	chr11:66059599-66059649	AG04450	lung:	fetal
50	chr11:66059599-66059649	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
2	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
3	chr11:66055397..66059696-chr11:66135983..66139913,5	K562	blood:
4	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:

Variant related genes	Relation type
YIF1A	TF binding region
YIF1A	CpG island
ENSG00000254762	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
14	esv3407698	chr11:66058401-66060949	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	esv32849	chr11:66059034-66060286	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66056000-66061800	Active TSS	Brain Angular Gyrus	brain
2	chr11:66058400-66059800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:66058400-66060200	Active TSS	Brain Substantia Nigra	brain
4	chr11:66058400-66060400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr11:66058400-66060600	Weak transcription	Hela-S3	cervix
6	chr11:66058600-66059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:66058600-66059800	Bivalent Enhancer	Placenta	Placenta
8	chr11:66058600-66060200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:66058600-66060400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:66058600-66060800	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr11:66058800-66060000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:66058800-66060200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:66058800-66060200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:66058800-66060200	Active TSS	Brain Anterior Caudate	brain
15	chr11:66058800-66060200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr11:66058800-66060200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:66058800-66060400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:66058800-66060400	Active TSS	Brain Cingulate Gyrus	brain
19	chr11:66058800-66060400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
20	chr11:66058800-66060400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr11:66058800-66060600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:66058800-66060600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:66059000-66059800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr11:66059000-66059800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:66059000-66059800	Active TSS	Aorta	Aorta
26	chr11:66059000-66059800	Active TSS	Brain Hippocampus Middle	brain
27	chr11:66059000-66059800	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr11:66059000-66059800	Active TSS	Gastric	stomach
29	chr11:66059000-66059800	Active TSS	Right Atrium	heart
30	chr11:66059000-66059800	Active TSS	A549	lung
31	chr11:66059000-66060000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr11:66059000-66060000	Flanking Active TSS	Pancreas	Pancrea
33	chr11:66059000-66060000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr11:66059000-66060200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:66059000-66060200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:66059000-66060200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:66059000-66060200	Bivalent Enhancer	Fetal Thymus	thymus
38	chr11:66059000-66060200	Enhancers	Lung	lung
39	chr11:66059000-66060400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:66059200-66059800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr11:66059200-66060000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:66059200-66060000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:66059200-66060000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
44	chr11:66059200-66060000	Bivalent/Poised TSS	HepG2	liver
45	chr11:66059200-66060200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:66059200-66060200	Bivalent Enhancer	Spleen	Spleen
47	chr11:66059400-66059800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
48	chr11:66059400-66059800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr11:66059400-66059800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
50	chr11:66059400-66059800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood

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