Variant report

Variant	rs536893586
Chromosome Location	chr11:10472421-10472422
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	SIN3A	chr11:10471753-10472989	H1-hESC	embryonic stem cell:	n/a	chr11:10472336-10472347 chr11:10472611-10472624
2	MAX	chr11:10471558-10473023	H1-hESC	embryonic stem cell:	n/a	chr11:10472180-10472190
3	RAD21	chr11:10472361-10473064	H1-hESC	embryonic stem cell:	n/a	chr11:10472662-10472675 chr11:10472958-10472967
4	CTCF	chr11:10472320-10472470	GM12871	blood:	n/a	n/a
5	POLR2A	chr11:10472091-10472947	Hela-S3	cervix:	n/a	n/a
6	TCF7L2	chr11:10471991-10472982	HCT-116	colon:	n/a	n/a
7	MYC	chr11:10472343-10472539	MCF10A-Er-Src	breast:	n/a	n/a
8	MAZ	chr11:10472260-10473064	Hela-S3	cervix:	n/a	n/a
9	ELF1	chr11:10471932-10473080	GM12878	blood:	n/a	chr11:10472784-10472796 chr11:10472800-10472812 chr11:10472358-10472370
10	POLR2A	chr11:10471611-10473084	NB4	blood:	n/a	n/a
11	GABPA	chr11:10471817-10472952	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:10471580-10473030	GM12892	blood:	n/a	n/a
13	MAX	chr11:10472263-10472885	Hela-S3	cervix:	n/a	n/a
14	E2F6	chr11:10471559-10473053	H1-hESC	embryonic stem cell:	n/a	chr11:10472101-10472111 chr11:10472250-10472259 chr11:10472295-10472310
15	POLR2A	chr11:10471832-10473025	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:10472401-10472894	Hela-S3	cervix:	n/a	n/a
17	ZEB1	chr11:10472134-10472981	GM12878	blood:	n/a	chr11:10472809-10472816
18	POLR2A	chr11:10472262-10472832	MCF-7	breast:	n/a	n/a
19	TBP	chr11:10472367-10472959	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:10471829-10472954	HCT-116	colon:	n/a	n/a
21	SIN3AK20	chr11:10472406-10473021	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:10471671-10472975	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:10472038-10472443	GM12878	blood:	n/a	n/a
24	CTCF	chr11:10472340-10472490	GM12868	blood:	n/a	n/a
25	MAX	chr11:10471577-10473019	H1-hESC	embryonic stem cell:	n/a	chr11:10472180-10472190
26	E2F6	chr11:10472015-10473003	H1-hESC	embryonic stem cell:	n/a	chr11:10472101-10472111 chr11:10472250-10472259 chr11:10472295-10472310
27	CTBP2	chr11:10471474-10472989	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr11:10471998-10472458	GM12892	blood:	n/a	chr11:10472250-10472264 chr11:10472151-10472165 chr11:10472250-10472259
29	POLR2A	chr11:10472361-10472962	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:10472086-10472958	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:10472176-10472958	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:10471925-10473050	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:10472086-10473008	HCT-116	colon:	n/a	n/a
34	POLR2A	chr11:10472039-10472894	ECC-1	luminal epithelium:	n/a	n/a
35	RUNX3	chr11:10472412-10473098	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:10471992-10472949	GM18505	blood:	n/a	n/a
37	ZEB1	chr11:10472171-10472483	GM12878	blood:	n/a	n/a
38	CTCF	chr11:10472380-10472530	GM12866	blood:	n/a	n/a
39	POLR2A	chr11:10471927-10473052	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr11:10471592-10472826	NB4	blood:	n/a	chr11:10472180-10472190

No.	Distal block	Cell Line	Cell type
1	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
2	chr11:10471184..10472852-chr11:10561290..10564176,2	K562	blood:
3	chr11:10469398..10472547-chr11:10473380..10477623,4	K562	blood:
4	chr11:10428535..10430173-chr11:10471249..10473167,2	MCF-7	breast:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction
ENSG00000110315	Chromatin interaction
ENSG00000177112	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3370994	chr11:10471201-10473749	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10471200-10472800	Active TSS	Brain Substantia Nigra	brain
2	chr11:10471400-10473000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr11:10471400-10473600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:10471600-10472600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:10471600-10472600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:10471600-10472800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:10471600-10472800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:10471600-10472800	Active TSS	Brain Cingulate Gyrus	brain
9	chr11:10471600-10472800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr11:10471600-10472800	Active TSS	Osteobl	bone
11	chr11:10471600-10473000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:10471600-10473200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:10471600-10473200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:10471600-10473200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:10471600-10473200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:10471600-10474000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr11:10471800-10472600	Active TSS	Brain Anterior Caudate	brain
18	chr11:10471800-10472600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr11:10471800-10472600	Bivalent/Poised TSS	Fetal Stomach	stomach
20	chr11:10471800-10472800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:10471800-10472800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:10471800-10472800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:10471800-10472800	Active TSS	Brain Hippocampus Middle	brain
24	chr11:10471800-10472800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr11:10471800-10472800	Flanking Active TSS	Right Ventricle	heart
26	chr11:10471800-10473000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:10471800-10473000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:10471800-10473000	Active TSS	Gastric	stomach
29	chr11:10471800-10473000	Active TSS	Rectal Smooth Muscle	rectum
30	chr11:10471800-10473200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:10471800-10473200	Flanking Active TSS	HMEC	breast
32	chr11:10471800-10473400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr11:10471800-10474400	Flanking Active TSS	NHEK	skin
34	chr11:10472000-10472600	Active TSS	Primary monocytes fromperipheralblood	blood
35	chr11:10472000-10472600	Active TSS	Primary B cells from peripheral blood	blood
36	chr11:10472000-10472600	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr11:10472000-10472600	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:10472000-10472600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr11:10472000-10472600	Active TSS	Adipose Nuclei	Adipose
40	chr11:10472000-10472600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
41	chr11:10472000-10472600	Active TSS	Pancreas	Pancrea
42	chr11:10472000-10472600	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:10472000-10472600	Active TSS	Right Atrium	heart
44	chr11:10472000-10472600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:10472000-10472600	Active TSS	HUVEC	blood vessel
46	chr11:10472000-10472800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr11:10472000-10472800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:10472000-10472800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:10472000-10472800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr11:10472000-10472800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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