Variant report

Variant	rs541729855
Chromosome Location	chr19:56185195-56185196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56184696-56185425	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr19:56185158-56185369	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:56184848-56185403	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:56184816-56185261	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:56185126-56185417	K562	blood:	n/a	n/a
6	POLR2A	chr19:56184849-56186152	HL-60	blood:	n/a	n/a
7	POLR2A	chr19:56184969-56185226	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr19:56184702-56185534	PANC-1	pancreas:	n/a	n/a
9	MYC	chr19:56184836-56185302	K562	blood:	n/a	chr19:56185192-56185202
10	POLR2A	chr19:56184853-56185396	K562	blood:	n/a	n/a
11	POLR2A	chr19:56184749-56185401	K562	blood:	n/a	n/a
12	POLR2A	chr19:56185066-56185302	HepG2	liver:	n/a	n/a
13	CBX3	chr19:56184780-56185447	K562	blood:	n/a	chr19:56185123-56185134
14	POLR2A	chr19:56184892-56185406	GM12891	blood:	n/a	n/a
15	ZBTB7A	chr19:56184796-56185884	K562	blood:	n/a	n/a
16	POLR2A	chr19:56184814-56185241	GM12892	blood:	n/a	n/a
17	POLR2A	chr19:56184790-56185480	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr19:56185034-56185404	GM12878	blood:	n/a	n/a
19	UBTF	chr19:56184978-56185299	K562	blood:	n/a	n/a
20	MAX	chr19:56184737-56185432	K562	blood:	n/a	chr19:56185192-56185202
21	UBTF	chr19:56184974-56185223	K562	blood:	n/a	n/a
22	ZBTB7A	chr19:56184893-56185982	K562	blood:	n/a	n/a
23	MAZ	chr19:56184916-56185833	K562	blood:	n/a	chr19:56185192-56185202
24	POLR2A	chr19:56185095-56185308	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr19:56184811-56185416	K562	blood:	n/a	n/a
26	POLR2A	chr19:56184841-56185473	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
2	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
3	chr19:55986321..55989143-chr19:56184299..56186966,2	K562	blood:
4	chr19:56182120..56185364-chr19:56187275..56191666,5	MCF-7	breast:
5	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
6	chr19:56171886..56172422-chr19:56184594..56185375,2	K562	blood:

No data

Variant related genes	Relation type
EPN1	TF binding region
ENSG00000184900	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000261221	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	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
6	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3406564	chr19:56184365-56186913	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv3337861	chr19:56185190-56186188	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
2	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
4	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
6	chr19:56170800-56185400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
8	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
9	chr19:56171400-56185400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:56175400-56185600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
13	chr19:56178000-56185800	Weak transcription	HSMMtube	muscle
14	chr19:56178600-56185800	Weak transcription	Fetal Brain Male	brain
15	chr19:56179800-56185400	Strong transcription	NHEK	skin
16	chr19:56180200-56185600	Genic enhancers	Dnd41	blood
17	chr19:56181600-56185800	Genic enhancers	Liver	Liver
18	chr19:56181800-56185400	Strong transcription	GM12878-XiMat	blood
19	chr19:56182000-56185200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:56182000-56185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:56182000-56185200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:56182000-56185200	Strong transcription	Fetal Muscle Leg	muscle
23	chr19:56182000-56185400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:56182000-56185600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:56182000-56185600	Weak transcription	HSMM	muscle
26	chr19:56182000-56185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:56182000-56185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:56182000-56185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:56182000-56185800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:56182000-56185800	Strong transcription	Fetal Intestine Large	intestine
31	chr19:56182000-56185800	Strong transcription	Fetal Intestine Small	intestine
32	chr19:56182000-56185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:56182000-56185800	Weak transcription	Stomach Mucosa	stomach
34	chr19:56182000-56185800	Strong transcription	Thymus	Thymus
35	chr19:56182000-56185800	Weak transcription	HMEC	breast
36	chr19:56182000-56185800	Weak transcription	NHDF-Ad	bronchial
37	chr19:56182000-56186000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:56182000-56186000	Weak transcription	Left Ventricle	heart
39	chr19:56182200-56185200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr19:56182200-56185400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr19:56182200-56185600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:56182200-56185600	Genic enhancers	A549	lung
43	chr19:56182200-56185800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:56182200-56185800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:56182400-56185200	Weak transcription	Brain Anterior Caudate	brain
46	chr19:56182400-56185800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:56182400-56185800	Weak transcription	Brain Angular Gyrus	brain
48	chr19:56182400-56185800	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:56182400-56185800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:56182400-56186200	Weak transcription	Aorta	Aorta

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