Variant report

Variant	rs566468513
Chromosome Location	chr19:39055825-39055826
allele	-/CACGGCGGC
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	E2F6	chr19:39055383-39056571	A549	lung:	n/a	n/a
2	POLR2A	chr19:39055645-39056421	A549	lung:	n/a	n/a
3	MAX	chr19:39055563-39056424	ECC-1	luminal epithelium:	n/a	n/a
4	SIN3AK20	chr19:39055366-39056534	PANC-1	pancreas:	n/a	n/a
5	TCF7L2	chr19:39055789-39055854	PANC-1	pancreas:	n/a	n/a
6	MAX	chr19:39055337-39056694	A549	lung:	n/a	n/a
7	BHLHE40	chr19:39055794-39056024	GM12878	blood:	n/a	n/a
8	REST	chr19:39055819-39056490	PANC-1	pancreas:	n/a	n/a
9	EBF1	chr19:39055751-39056344	GM12878	blood:	n/a	n/a
10	CREB1	chr19:39055735-39056375	A549	lung:	n/a	n/a
11	RUNX3	chr19:39055772-39056097	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:39055689-39056317	A549	lung:	n/a	n/a
13	MAX	chr19:39055394-39056575	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39054660..39056810-chr19:39061763..39063298,2	K562	blood:

Variant related genes	Relation type
RYR1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
3	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1058902	chr19:39025940-39078574	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1064490	chr19:39029788-39078574	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	esv3410331	chr19:39055137-39057160	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
2	chr19:39035200-39066400	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:39036000-39076400	Weak transcription	Brain Substantia Nigra	brain
4	chr19:39051000-39056200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:39051600-39066400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:39051800-39056200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:39051800-39056400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:39053200-39077800	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:39053200-39086800	Weak transcription	Brain Angular Gyrus	brain
10	chr19:39053200-39086800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:39053400-39075400	Weak transcription	Brain Anterior Caudate	brain
12	chr19:39053800-39056000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:39053800-39061400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:39055000-39056000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr19:39055000-39056800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:39055000-39057200	Weak transcription	HSMMtube	muscle
17	chr19:39055200-39056000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:39055400-39056000	Active TSS	Right Ventricle	heart
19	chr19:39055400-39056400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:39055400-39056400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr19:39055400-39056400	Bivalent/Poised TSS	Colonic Mucosa	Colon
22	chr19:39055400-39056400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr19:39055400-39056600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:39055400-39056800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr19:39055400-39056800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:39055400-39056800	Enhancers	GM12878-XiMat	blood
27	chr19:39055400-39058400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:39055600-39056000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:39055600-39056000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:39055600-39056000	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr19:39055600-39056000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:39055600-39056000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:39055600-39056000	Active TSS	Lung	lung
34	chr19:39055600-39056000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
35	chr19:39055600-39056200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:39055600-39056200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr19:39055600-39056200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:39055600-39056200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:39055600-39056200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:39055600-39056200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
41	chr19:39055600-39056400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr19:39055600-39056400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:39055600-39056400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr19:39055600-39056400	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr19:39055600-39056400	Enhancers	Pancreas	Pancrea
46	chr19:39055600-39056400	Bivalent/Poised TSS	Thymus	Thymus
47	chr19:39055600-39056400	Active TSS	A549	lung
48	chr19:39055600-39056600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr19:39055600-39056600	Enhancers	Spleen	Spleen
50	chr19:39055800-39056000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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