Variant report

Variant	rs374206573
Chromosome Location	chr19:41250150-41250151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41249791-41250269	A549	lung:	n/a	n/a
2	POLR2A	chr19:41249786-41251222	K562	blood:	n/a	n/a
3	POLR2A	chr19:41250149-41250181	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:41250004-41250159	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:41249978-41250720	A549	lung:	n/a	n/a
6	POLR2A	chr19:41249927-41251549	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:41249813-41250182	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr19:41249912-41250752	K562	blood:	n/a	n/a
9	POLR2A	chr19:41249833-41250499	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr19:41249748-41251356	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:41250086-41250234	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41244091..41247840-chr19:41248983..41251927,5	K562	blood:
2	chr19:41222890..41224913-chr19:41248409..41251329,2	MCF-7	breast:
3	chr19:41250030..41251004-chr19:41312820..41313338,2	MCF-7	breast:
4	chr19:41245929..41248021-chr19:41248961..41250491,2	MCF-7	breast:
5	chr19:41243259..41245558-chr19:41249121..41252109,2	MCF-7	breast:
6	chr19:41241454..41243061-chr19:41249633..41252530,2	MCF-7	breast:
7	chr19:41249699..41252610-chr19:41306249..41307925,2	K562	blood:
8	chr19:41241471..41243088-chr19:41248764..41251353,2	MCF-7	breast:
9	chr19:41245888..41248575-chr19:41249576..41251299,3	MCF-7	breast:
10	chr19:41196421..41198353-chr19:41250017..41252593,2	MCF-7	breast:
11	chr19:41246355..41251647-chr19:41252986..41257062,8	MCF-7	breast:
12	chr19:41224831..41226803-chr19:41249457..41251875,2	K562	blood:
13	chr19:41225541..41227070-chr19:41249613..41252351,2	MCF-7	breast:
14	chr19:41248854..41252993-chr19:41253162..41257094,7	MCF-7	breast:
15	chr19:41221097..41222684-chr19:41249290..41252437,3	MCF-7	breast:
16	chr19:41244887..41248770-chr19:41248882..41252217,6	K562	blood:
17	chr19:41249292..41252610-chr19:41304963..41307925,4	K562	blood:

No data

Variant related genes	Relation type
C19orf54	TF binding region
ENSG00000188493	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000077312	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1793665	chr19:41249508-41258355	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
4	esv1803061	chr19:41249508-41258355	Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41227000-41254600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:41227200-41255200	Weak transcription	Fetal Heart	heart
3	chr19:41228600-41251000	Strong transcription	Fetal Brain Female	brain
4	chr19:41229800-41250400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:41237000-41255400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:41237600-41255200	Weak transcription	Fetal Brain Male	brain
7	chr19:41240200-41255600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:41241600-41251000	Weak transcription	NH-A	brain
9	chr19:41242000-41250600	Strong transcription	Fetal Intestine Small	intestine
10	chr19:41242000-41253800	Weak transcription	GM12878-XiMat	blood
11	chr19:41242200-41255600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:41242400-41251000	Weak transcription	Hela-S3	cervix
13	chr19:41242600-41250200	Strong transcription	Fetal Intestine Large	intestine
14	chr19:41243200-41251200	Weak transcription	Fetal Kidney	kidney
15	chr19:41243400-41254400	Weak transcription	Psoas Muscle	Psoas
16	chr19:41243600-41255600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:41243800-41255400	Weak transcription	HSMM	muscle
18	chr19:41244000-41250800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:41245000-41250200	Genic enhancers	Placenta	Placenta
20	chr19:41245000-41251000	Weak transcription	HUVEC	blood vessel
21	chr19:41245000-41254600	Weak transcription	Stomach Mucosa	stomach
22	chr19:41245000-41255400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:41245200-41254400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:41245600-41251000	Weak transcription	Osteobl	bone
25	chr19:41245600-41251200	Weak transcription	HSMMtube	muscle
26	chr19:41245600-41255600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:41245800-41255400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:41246000-41255600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:41246200-41251000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:41246200-41254400	Weak transcription	Brain Substantia Nigra	brain
31	chr19:41246200-41255400	Weak transcription	Brain Angular Gyrus	brain
32	chr19:41246200-41255400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:41246200-41255400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:41246200-41255600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:41246200-41255600	Weak transcription	Small Intestine	intestine
36	chr19:41246200-41256000	Weak transcription	Aorta	Aorta
37	chr19:41246400-41250600	Weak transcription	A549	lung
38	chr19:41246400-41254600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr19:41246400-41255000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:41246400-41255800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:41246600-41250800	Strong transcription	Fetal Stomach	stomach
42	chr19:41246600-41254200	Weak transcription	Fetal Thymus	thymus
43	chr19:41246600-41254400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr19:41246600-41254400	Weak transcription	Left Ventricle	heart
45	chr19:41246600-41254400	Weak transcription	HMEC	breast
46	chr19:41246800-41250800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:41246800-41250800	Weak transcription	Ovary	ovary
48	chr19:41246800-41251000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:41246800-41251000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:41246800-41254000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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