Variant report

Variant	rs73562612
Chromosome Location	chr19:52074910-52074911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:52074074-52074932	A549	lung:	n/a	n/a
2	NR2F2	chr19:52074045-52075159	K562	blood:	n/a	n/a
3	MTA3	chr19:52074163-52075563	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:52074025-52077434	U87	brain:	n/a	n/a
5	UBTF	chr19:52074244-52075240	K562	blood:	n/a	n/a
6	REST	chr19:52074062-52075097	H1-neurons	neurons:	n/a	chr19:52075013-52075033
7	ARID3A	chr19:52073964-52074915	K562	blood:	n/a	n/a
8	GABPA	chr19:52073937-52075247	A549	lung:	n/a	chr19:52074457-52074471 chr19:52074460-52074474 chr19:52074460-52074471
9	HCFC1	chr19:52073817-52075083	Hela-S3	cervix:	n/a	n/a
10	TCF12	chr19:52073994-52074959	A549	lung:	n/a	chr19:52074638-52074648
11	RCOR1	chr19:52074190-52076188	K562	blood:	n/a	n/a
12	POLR2A	chr19:52074059-52077284	PBDE	blood:	n/a	n/a
13	POLR2A	chr19:52074907-52075070	HUVEC	blood vessel:	n/a	n/a
14	GATA1	chr19:52074810-52077148	PBDE	blood:	n/a	chr19:52075825-52075835 chr19:52074842-52074853 chr19:52076736-52076745 chr19:52076927-52076934 chr19:52076831-52076840
15	JUN	chr19:52074050-52075014	K562	blood:	n/a	chr19:52074772-52074783
16	POLR2A	chr19:52074872-52077276	U87	brain:	n/a	n/a
17	POLR2A	chr19:52074900-52075262	K562	blood:	n/a	n/a
18	YY1	chr19:52074037-52074923	GM12878	blood:	n/a	chr19:52074309-52074321
19	MAZ	chr19:52074233-52075113	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:52074893-52075358	K562	blood:	n/a	n/a
21	TEAD4	chr19:52074869-52076257	K562	blood:	n/a	n/a
22	ELF1	chr19:52074022-52074923	HCT-116	colon:	n/a	chr19:52074516-52074525 chr19:52074513-52074526 chr19:52074515-52074526 chr19:52074515-52074526
23	ZC3H11A	chr19:52074171-52075009	K562	blood:	n/a	n/a
24	POLR2A	chr19:52074874-52075150	K562	blood:	n/a	n/a
25	POLR2A	chr19:52074203-52074917	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:52074069-52077434	U87	brain:	n/a	n/a
27	RUNX3	chr19:52074215-52075050	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:52074872-52077594	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51843178..51845619-chr19:52074404..52075904,2	K562	blood:
2	chr19:52073774..52076492-chr19:52083212..52084974,2	K562	blood:
3	chr19:52073066..52077206-chr19:52096074..52099799,4	K562	blood:

Variant related genes	Relation type
ZNF175	TF binding region
ENSG00000186806	Chromatin interaction
ENSG00000269388	Chromatin interaction
ENSG00000167765	Chromatin interaction
ENSG00000105497	Chromatin interaction
ENSG00000267905	Chromatin interaction

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

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

rs_ID	r²[population]
rs58669479	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr19:52073800-52075000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:52073800-52075000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr19:52073800-52075200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:52073800-52075400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr19:52073800-52075800	Active TSS	A549	lung
6	chr19:52074000-52075000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:52074000-52075000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:52074000-52075000	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr19:52074000-52075000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:52074000-52075000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:52074000-52075000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:52074000-52075000	Active TSS	Brain Anterior Caudate	brain
13	chr19:52074000-52075000	Active TSS	Brain Cingulate Gyrus	brain
14	chr19:52074000-52075000	Active TSS	Brain Hippocampus Middle	brain
15	chr19:52074000-52075000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr19:52074000-52075000	Active TSS	Fetal Brain Female	brain
17	chr19:52074000-52075000	Active TSS	Hela-S3	cervix
18	chr19:52074000-52075000	Active TSS	HMEC	breast
19	chr19:52074000-52075000	Active TSS	NHLF	lung
20	chr19:52074000-52075200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:52074000-52075200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:52074000-52075200	Active TSS	Muscle Satellite Cultured Cells	--
23	chr19:52074000-52075200	Active TSS	Brain Germinal Matrix	brain
24	chr19:52074000-52075200	Active TSS	NHDF-Ad	bronchial
25	chr19:52074000-52075400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr19:52074000-52075400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:52074000-52075600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr19:52074000-52075600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr19:52074000-52075800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr19:52074000-52075800	Active TSS	K562	blood
31	chr19:52074000-52076000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:52074200-52075000	Active TSS	Primary T cells from cord blood	blood
33	chr19:52074200-52075000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:52074200-52075000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:52074200-52075000	Active TSS	Brain Angular Gyrus	brain
36	chr19:52074200-52075000	Active TSS	Brain Substantia Nigra	brain
37	chr19:52074200-52075000	Active TSS	Duodenum Mucosa	Duodenum
38	chr19:52074200-52075000	Active TSS	Esophagus	oesophagus
39	chr19:52074200-52075000	Active TSS	Fetal Lung	lung
40	chr19:52074200-52075000	Active TSS	Fetal Muscle Trunk	muscle
41	chr19:52074200-52075000	Active TSS	Placenta	Placenta
42	chr19:52074200-52075000	Active TSS	Fetal Thymus	thymus
43	chr19:52074200-52075000	Active TSS	Left Ventricle	heart
44	chr19:52074200-52075000	Active TSS	Psoas Muscle	Psoas
45	chr19:52074200-52075000	Active TSS	Right Atrium	heart
46	chr19:52074200-52075000	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:52074200-52075000	Active TSS	Stomach Smooth Muscle	stomach
48	chr19:52074200-52075000	Active TSS	NHEK	skin
49	chr19:52074200-52075000	Active TSS	Osteobl	bone
50	chr19:52074200-52075200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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