Variant report

Variant	rs193127564
Chromosome Location	chr11:66515096-66515097
allele	A/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	STAT3	chr11:66515050-66515103	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr11:66514972-66516341	HUVEC	blood vessel:	n/a	chr11:66515566-66515578 chr11:66515593-66515602
3	KAP1	chr11:66515048-66515627	U2OS	brain:	n/a	n/a
4	ZNF263	chr11:66515081-66515379	HEK293-T-REx	kidney:	n/a	n/a
5	SETDB1	chr11:66514997-66515334	U2OS	brain:	n/a	n/a
6	STAT3	chr11:66515070-66515253	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66462412..66464688-chr11:66512758..66515188,2	MCF-7	breast:
2	chr11:66382524..66385340-chr11:66511920..66516933,5	MCF-7	breast:
3	chr11:66512669..66515262-chr17:57923171..57924855,2	MCF-7	breast:
4	chr11:66492885..66503049-chr11:66507993..66515918,26	MCF-7	breast:
5	chr11:66510399..66513984-chr11:66514064..66517719,8	MCF-7	breast:

Variant related genes	Relation type
C11orf80	TF binding region
ENSG00000199325	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000239306	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription 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	70 gene(s)	inside rSNPs	diseases
6	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv897792	chr11:66486143-66529101	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv897793	chr11:66486143-66533469	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	esv1798614	chr11:66514847-66535177	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66513000-66529000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:66513200-66515200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:66513200-66515200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:66513200-66515200	Weak transcription	Lung	lung
5	chr11:66513200-66517600	Weak transcription	Thymus	Thymus
6	chr11:66513200-66521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:66513200-66526600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:66513200-66527600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:66513200-66530800	Weak transcription	HSMMtube	muscle
10	chr11:66513200-66541200	Weak transcription	Aorta	Aorta
11	chr11:66513200-66555000	Weak transcription	Pancreas	Pancrea
12	chr11:66513400-66515800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:66513400-66516400	Weak transcription	NHEK	skin
14	chr11:66513400-66526200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:66513400-66527200	Weak transcription	Fetal Thymus	thymus
16	chr11:66513400-66528000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:66513400-66528800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:66513400-66529600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:66513400-66531600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:66513400-66540800	Weak transcription	Spleen	Spleen
21	chr11:66513400-66547800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:66513400-66606800	Weak transcription	Brain Angular Gyrus	brain
23	chr11:66513600-66515200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:66513600-66515200	Weak transcription	Fetal Brain Male	brain
25	chr11:66513600-66515200	Weak transcription	NHLF	lung
26	chr11:66513600-66526600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:66513600-66527000	Weak transcription	Fetal Intestine Small	intestine
28	chr11:66513600-66527600	Weak transcription	Fetal Stomach	stomach
29	chr11:66513600-66528000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:66513600-66529000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:66513600-66529000	Weak transcription	Fetal Intestine Large	intestine
32	chr11:66513600-66530400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:66513600-66532600	Weak transcription	Colonic Mucosa	Colon
34	chr11:66513600-66538800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:66513800-66523200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:66513800-66526000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:66513800-66527800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:66513800-66528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:66513800-66529200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:66513800-66539800	Weak transcription	GM12878-XiMat	blood
41	chr11:66514000-66515800	Enhancers	HMEC	breast
42	chr11:66514400-66530400	Weak transcription	Primary B cells from cord blood	blood
43	chr11:66514800-66515200	Enhancers	HUVEC	blood vessel
44	chr11:66514800-66515400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:66514800-66515400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:66514800-66515400	Enhancers	Brain Germinal Matrix	brain
47	chr11:66514800-66515600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:66515000-66515200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:66515000-66515200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:66515000-66515400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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