Variant report

Variant	rs112614234
Chromosome Location	chr19:39197018-39197019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39197002-39197156	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:39196827-39197079	K562	blood:	n/a	n/a
3	POLR2A	chr19:39164600-39206677	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr19:39196882-39197742	K562	blood:	n/a	n/a
5	BCL3	chr19:39196079-39197246	A549	lung:	n/a	n/a
6	POLR2A	chr19:39194344-39197081	A549	lung:	n/a	n/a
7	POLR2A	chr19:39164601-39206634	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:39196297-39197230	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39138096..39140426-chr19:39194942..39197534,2	K562	blood:
2	chr19:39193152..39194811-chr19:39195502..39197408,2	MCF-7	breast:
3	chr19:39135966..39142009-chr19:39184894..39201240,23	MCF-7	breast:
4	chr19:39156320..39158010-chr19:39194511..39197034,2	MCF-7	breast:
5	chr19:39195090..39197798-chr19:39197954..39200910,2	K562	blood:
6	chr19:39188988..39191568-chr19:39196773..39198284,2	K562	blood:
7	chr19:39196541..39198571-chr19:39208360..39211296,2	K562	blood:

No data

Variant related genes	Relation type
ACTN4	TF binding region
ENSG00000130402	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv817834	chr19:39174332-39237950	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active 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	14 gene(s)	inside rSNPs	diseases
4	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active 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	19 gene(s)	inside rSNPs	diseases
5	esv1826260	chr19:39178364-39248836	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	esv3329584	chr19:39196712-39204110	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv911669	chr19:39196745-39231548	Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39164400-39200200	Genic enhancers	Fetal Intestine Small	intestine
2	chr19:39178600-39198200	Genic enhancers	Fetal Intestine Large	intestine
3	chr19:39179600-39205800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:39182200-39214200	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr19:39182200-39225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:39184800-39205800	Genic enhancers	A549	lung
7	chr19:39185200-39205800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:39186400-39213400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:39187200-39201200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
10	chr19:39187200-39205800	Genic enhancers	Right Ventricle	heart
11	chr19:39187800-39198600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:39189400-39223400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:39189800-39198200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:39189800-39222800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:39190000-39203800	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr19:39190000-39205800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:39190000-39208800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:39190000-39218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:39190200-39222600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr19:39190200-39222800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:39190400-39206000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:39190400-39208400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:39190400-39209200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:39190400-39212000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:39190400-39212200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:39190400-39217000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:39190400-39218000	Strong transcription	Primary T cells from cord blood	blood
28	chr19:39190400-39222400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:39190400-39222600	Strong transcription	Dnd41	blood
30	chr19:39190600-39199800	Strong transcription	NHEK	skin
31	chr19:39190600-39202800	Strong transcription	GM12878-XiMat	blood
32	chr19:39190600-39203200	Strong transcription	K562	blood
33	chr19:39190600-39205400	Genic enhancers	Spleen	Spleen
34	chr19:39190600-39205600	Strong transcription	Fetal Brain Female	brain
35	chr19:39190600-39209000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:39190600-39209200	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr19:39190600-39216400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr19:39190600-39217000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:39190600-39219600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:39190600-39222800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:39190800-39220400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:39190800-39222600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr19:39190800-39222600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:39190800-39222800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr19:39190800-39223000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:39190800-39223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:39191000-39203200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:39191000-39205800	Genic enhancers	Left Ventricle	heart
49	chr19:39191000-39222400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:39191000-39222600	Strong transcription	Monocytes-CD14+_RO01746	blood

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