Variant report

Variant	rs11553635
Chromosome Location	chr19:42801289-42801290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42800841-42801565	U87	brain:	n/a	n/a
2	POLR2A	chr19:42800938-42801547	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:42800916-42801404	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:42794908-42801736	H1-neurons	neurons:	n/a	n/a
5	FOSL2	chr19:42799991-42801641	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:42799742-42801626	GM12892	blood:	n/a	n/a
7	POLR2A	chr19:42799787-42801318	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr19:42799504-42801660	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr19:42798533-42801635	K562	blood:	n/a	n/a
10	NFATC1	chr19:42801090-42801410	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:42799846-42801634	HL-60	blood:	n/a	n/a
12	POLR2A	chr19:42799894-42801404	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:42799954-42801567	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:42799778-42801726	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:42800951-42801592	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr19:42799513-42801533	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:42798112-42801706	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr19:42799391-42802652	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:42799974-42801605	GM12878	blood:	n/a	n/a
20	TCF12	chr19:42799607-42801297	A549	lung:	n/a	chr19:42800681-42800690 chr19:42800367-42800377 chr19:42800167-42800177
21	POLR2A	chr19:42799243-42801670	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:42799193-42803016	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr19:42799912-42801665	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:42797908-42801650	K562	blood:	n/a	n/a
25	POLR2A	chr19:42800026-42801444	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:42799873-42801598	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr19:42800130-42801494	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:42799309-42801351	K562	blood:	n/a	n/a
29	POLR2A	chr19:42799377-42801547	K562	blood:	n/a	n/a
30	POLR2A	chr19:42800939-42801361	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr19:42800892-42801558	GM12891	blood:	n/a	n/a
32	POLR2A	chr19:42799603-42801674	U87	brain:	n/a	n/a
33	BCL3	chr19:42799516-42801543	A549	lung:	n/a	n/a
34	POLR2A	chr19:42799562-42801705	U87	brain:	n/a	n/a
35	POLR2A	chr19:42800888-42801483	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:42800935-42801570	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:42798210-42803102	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr19:42801161-42801333	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr19:42799681-42801434	HepG2	liver:	n/a	n/a
40	BCL3	chr19:42799609-42801451	A549	lung:	n/a	n/a
41	POLR2A	chr19:42800841-42801615	U87	brain:	n/a	n/a
42	POLR2A	chr19:42801199-42801557	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr19:42800950-42801337	A549	lung:	n/a	n/a
44	POLR2A	chr19:42801139-42801569	A549	lung:	n/a	n/a
45	JUND	chr19:42800875-42801540	A549	lung:	n/a	n/a
46	POLR2A	chr19:42799711-42801535	K562	blood:	n/a	n/a
47	POLR2A	chr19:42800826-42801330	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr19:42799446-42801684	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr19:42799407-42801678	A549	lung:	n/a	chr19:42800371-42800384 chr19:42800369-42800387
50	POLR2A	chr19:42798724-42801840	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
2	chr19:42800037..42802686-chr19:42813710..42815319,2	MCF-7	breast:
3	chr19:42687341..42690027-chr19:42800548..42802977,2	K562	blood:
4	chr19:42798812..42802219-chr19:42804205..42807845,10	MCF-7	breast:
5	chr19:42800206..42802945-chr19:42830360..42832764,2	K562	blood:
6	chr19:42792212..42794667-chr19:42800851..42802759,2	MCF-7	breast:
7	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:

No data

Variant related genes	Relation type
PRR19	TF binding region
ENSG00000079462	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000204957	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2304211	1.00[YRI][hapmap]

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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
6	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42790600-42801600	Strong transcription	Dnd41	blood
2	chr19:42790600-42802400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:42790600-42804600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:42790600-42804800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:42790600-42805000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:42790600-42805400	Weak transcription	Stomach Mucosa	stomach
7	chr19:42790600-42806000	Weak transcription	Psoas Muscle	Psoas
8	chr19:42790800-42802000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:42790800-42802200	Strong transcription	Thymus	Thymus
10	chr19:42791000-42801400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:42791000-42801600	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr19:42791000-42801600	Strong transcription	NHLF	lung
13	chr19:42791000-42802800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:42791200-42801400	Strong transcription	Osteobl	bone
15	chr19:42791200-42801600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:42791200-42804600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:42791200-42805800	Weak transcription	Fetal Heart	heart
18	chr19:42791200-42806000	Weak transcription	Right Atrium	heart
19	chr19:42791400-42801400	Strong transcription	Brain Cingulate Gyrus	brain
20	chr19:42791400-42801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:42791400-42804400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:42791400-42804600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:42791600-42804600	Strong transcription	Fetal Stomach	stomach
24	chr19:42792000-42801600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:42792200-42804000	Strong transcription	Fetal Brain Female	brain
26	chr19:42792800-42806000	Weak transcription	HSMM	muscle
27	chr19:42793800-42801600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:42794400-42805600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:42794400-42805800	Weak transcription	NHDF-Ad	bronchial
30	chr19:42795400-42804000	Strong transcription	Brain Germinal Matrix	brain
31	chr19:42795600-42804600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:42796000-42801600	Strong transcription	Esophagus	oesophagus
33	chr19:42796000-42803000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:42796000-42805600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:42796200-42802600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:42796400-42801400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:42796400-42801400	Strong transcription	NHEK	skin
38	chr19:42796600-42801600	Strong transcription	Fetal Muscle Leg	muscle
39	chr19:42796600-42805600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:42796600-42805600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr19:42796800-42803000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:42797400-42801800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:42797800-42801400	Strong transcription	HUVEC	blood vessel
44	chr19:42798400-42805400	Weak transcription	HepG2	liver
45	chr19:42798600-42806200	Weak transcription	Small Intestine	intestine
46	chr19:42799000-42802200	Weak transcription	Pancreas	Pancrea
47	chr19:42799000-42805200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:42799000-42805400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:42799000-42805400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:42799000-42805400	Weak transcription	Rectal Mucosa Donor 31	rectum

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