Variant report

Variant	rs558375911
Chromosome Location	chr11:63534771-63534772
allele	A/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	MAZ	chr11:63533898-63537592	IMR90	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
2	CTCF	chr11:63534506-63536859	A549	lung:	n/a	chr11:63536572-63536585 chr11:63535824-63535837 chr11:63536692-63536705 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63536570-63536588 chr11:63535824-63535833
3	REST	chr11:63534517-63537808	H1-neurons	neurons:	n/a	chr11:63535702-63535712 chr11:63535771-63535781 chr11:63535790-63535803 chr11:63536356-63536366 chr11:63535815-63535828 chr11:63535778-63535791 chr11:63535775-63535788 chr11:63534588-63534606
4	POLR2A	chr11:63534739-63537668	H1-neurons	neurons:	n/a	n/a
5	MAX	chr11:63534747-63535472	A549	lung:	n/a	n/a
6	POLR2A	chr11:63534616-63535439	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:63534756-63535378	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:63534690-63535479	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:63534650-63537159	HUVEC	blood vessel:	n/a	n/a
10	RCOR1	chr11:63534752-63534947	HepG2	liver:	n/a	n/a
11	SMC3	chr11:63534296-63536180	SK-N-SH	brain:	n/a	chr11:63535823-63535837 chr11:63535827-63535837 chr11:63534468-63534475
12	POLR2A	chr11:63534668-63536701	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63448182..63450282-chr11:63533461..63536298,4	MCF-7	breast:
2	chr11:63533005..63535080-chr11:63601950..63603947,2	MCF-7	breast:
3	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
4	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
5	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
6	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
7	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
8	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
9	chr1:89566099..89566939-chr11:63533954..63534897,2	MCF-7	breast:
10	chr11:63534031..63536529-chr11:63677173..63679815,2	K562	blood:

Variant related genes	Relation type
C11orf95	TF binding region
ENSG00000256280	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000133318	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv1821734	chr11:63533300-63537509	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3322085	chr11:63534376-63538774	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63509000-63534800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:63511000-63534800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:63516000-63534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:63519400-63534800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:63521400-63534800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:63526600-63534800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:63526600-63534800	Weak transcription	Small Intestine	intestine
8	chr11:63529200-63534800	Weak transcription	Primary T cells from cord blood	blood
9	chr11:63529200-63534800	Enhancers	Fetal Heart	heart
10	chr11:63529400-63534800	Enhancers	Fetal Lung	lung
11	chr11:63531200-63534800	Weak transcription	Brain Substantia Nigra	brain
12	chr11:63531200-63534800	Weak transcription	Esophagus	oesophagus
13	chr11:63531200-63534800	Weak transcription	Left Ventricle	heart
14	chr11:63531400-63534800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:63531400-63535000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr11:63532400-63535000	Flanking Active TSS	HepG2	liver
17	chr11:63532600-63535000	Weak transcription	Gastric	stomach
18	chr11:63532600-63535200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:63532800-63534800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:63532800-63535000	Enhancers	Pancreas	Pancrea
21	chr11:63532800-63535600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
22	chr11:63533000-63534800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:63533200-63534800	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:63533200-63534800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:63533600-63534800	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:63533600-63534800	Weak transcription	Colonic Mucosa	Colon
27	chr11:63533600-63534800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:63533800-63534800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:63533800-63534800	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:63533800-63534800	Enhancers	Placenta	Placenta
31	chr11:63533800-63534800	Enhancers	Fetal Thymus	thymus
32	chr11:63533800-63534800	Enhancers	Right Ventricle	heart
33	chr11:63533800-63534800	Enhancers	HMEC	breast
34	chr11:63533800-63535200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:63533800-63535200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
36	chr11:63534000-63534800	Enhancers	Liver	Liver
37	chr11:63534000-63534800	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr11:63534000-63534800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:63534000-63534800	Enhancers	Fetal Muscle Leg	muscle
40	chr11:63534000-63534800	Enhancers	Right Atrium	heart
41	chr11:63534000-63535000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:63534000-63535000	Flanking Active TSS	Hela-S3	cervix
43	chr11:63534200-63534800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:63534200-63534800	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:63534200-63534800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:63534200-63534800	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:63534200-63534800	Enhancers	Thymus	Thymus
48	chr11:63534200-63535000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:63534200-63535000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:63534200-63535000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung

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