Variant report

Variant	rs57221478
Chromosome Location	chr19:39921687-39921688
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39919482..39921784-chr19:39975995..39978521,2	K562	blood:
2	chr19:39921585..39922257-chr20:633556..634300,2	Hela-S3	cervix:
3	chr19:39921621..39923975-chr19:39932520..39935648,3	MCF-7	breast:
4	chr17:75136137..75136647-chr19:39921438..39922065,2	Hela-S3	cervix:
5	chr19:39915714..39918595-chr19:39919774..39922739,3	MCF-7	breast:
6	chr19:39921200..39923671-chr19:40028899..40031832,2	K562	blood:
7	chr11:65266097..65266667-chr19:39921578..39922085,2	Hela-S3	cervix:
8	chr19:39921622..39923186-chr19:39964925..39966961,2	K562	blood:
9	chr1:17231264..17231878-chr19:39921645..39922367,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000176396	Chromatin interaction
ENSG00000271303	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000269410	Chromatin interaction
ENSG00000105197	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000196235	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
3	nsv870133	chr19:39822160-39938468	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	nsv911683	chr19:39847132-39924129	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
5	nsv911684	chr19:39886218-39923863	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
6	nsv911685	chr19:39888449-39948779	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
7	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
10	esv1791966	chr19:39921479-39954931	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39904800-39925800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39905400-39923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:39905800-39923000	Weak transcription	Brain Anterior Caudate	brain
4	chr19:39905800-39923000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:39910000-39922600	Weak transcription	Liver	Liver
6	chr19:39911400-39923400	Weak transcription	Fetal Brain Male	brain
7	chr19:39913800-39922800	Weak transcription	Psoas Muscle	Psoas
8	chr19:39915400-39923000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:39916200-39921800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:39916800-39923000	Weak transcription	Dnd41	blood
11	chr19:39917200-39921800	Weak transcription	Primary T cells from cord blood	blood
12	chr19:39917400-39921800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:39917400-39922800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:39917400-39923000	Weak transcription	Brain Angular Gyrus	brain
15	chr19:39917400-39923000	Weak transcription	Brain Substantia Nigra	brain
16	chr19:39918000-39922200	Enhancers	Placenta	Placenta
17	chr19:39919600-39922000	Weak transcription	Aorta	Aorta
18	chr19:39919600-39923000	Weak transcription	Pancreas	Pancrea
19	chr19:39919600-39923200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:39919600-39925000	Weak transcription	Right Atrium	heart
21	chr19:39919800-39922800	Weak transcription	Fetal Intestine Large	intestine
22	chr19:39919800-39923000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:39919800-39923000	Weak transcription	Left Ventricle	heart
24	chr19:39919800-39923200	Weak transcription	HMEC	breast
25	chr19:39919800-39923600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:39919800-39923600	Weak transcription	Fetal Kidney	kidney
27	chr19:39919800-39924800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr19:39920000-39921800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:39920000-39921800	Weak transcription	NHDF-Ad	bronchial
30	chr19:39920000-39922800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:39920000-39923000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:39920000-39923000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:39920000-39923000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:39920000-39923000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:39920000-39923000	Weak transcription	HSMMtube	muscle
36	chr19:39920000-39923200	Weak transcription	Ovary	ovary
37	chr19:39920000-39923400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:39920000-39923400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:39920000-39924200	Weak transcription	Fetal Heart	heart
40	chr19:39920200-39921800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:39920200-39923200	Weak transcription	Fetal Lung	lung
42	chr19:39921000-39921800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr19:39921000-39921800	Flanking Active TSS	A549	lung
44	chr19:39921000-39922000	Enhancers	Small Intestine	intestine
45	chr19:39921000-39922000	Enhancers	Stomach Mucosa	stomach
46	chr19:39921000-39922200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr19:39921000-39922200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:39921000-39922200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr19:39921000-39922200	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr19:39921000-39922200	Flanking Active TSS	Hela-S3	cervix

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