Variant report

Variant	rs562433944
Chromosome Location	chr19:51308602-51308603
allele	A/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	chr19:51307397-51308657	SK-N-SH	brain:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51308329-51308340
2	NR2F2	chr19:51307531-51308897	K562	blood:	n/a	n/a
3	MAX	chr19:51306885-51308746	HCT-116	colon:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
4	CEBPB	chr19:51307736-51308617	ECC-1	luminal epithelium:	n/a	chr19:51307784-51307796
5	CREB1	chr19:51307494-51308675	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:51306345-51308647	HL-60	blood:	n/a	n/a
7	POLR2A	chr19:51305218-51308754	SK-N-MC	brain:	n/a	n/a
8	REST	chr19:51307232-51308752	H1-neurons	neurons:	n/a	chr19:51308032-51308039 chr19:51308032-51308052 chr19:51307571-51307584 chr19:51308032-51308052
9	TAF1	chr19:51307205-51308602	H1-hESC	embryonic stem cell:	n/a	n/a
10	HDAC2	chr19:51307540-51308671	MCF-7	breast:	n/a	n/a
11	MXI1	chr19:51306560-51308750	IMR90	lung:	n/a	chr19:51308329-51308338 chr19:51308331-51308340
12	ZBTB7A	chr19:51308187-51308632	ECC-1	luminal epithelium:	n/a	n/a
13	MYC	chr19:51306974-51308659	A549	lung:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
14	SIN3AK20	chr19:51306850-51308702	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:51306721-51308607	GM12892	blood:	n/a	n/a
16	POLR2A	chr19:51306807-51308641	Hela-S3	cervix:	n/a	n/a
17	GTF2F1	chr19:51307631-51308629	Hela-S3	cervix:	n/a	n/a
18	USF1	chr19:51307872-51308723	HCT-116	colon:	n/a	n/a
19	MAX	chr19:51306821-51308602	Hela-S3	cervix:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
20	POLR2A	chr19:51305153-51308634	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:51307387-51308625	K562	blood:	n/a	n/a
22	POLR2A	chr19:51305179-51309471	HepG2	liver:	n/a	n/a
23	MYBL2	chr19:51307530-51308654	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:51307554-51308680	H1-neurons	neurons:	n/a	n/a
25	ELF1	chr19:51307743-51308612	K562	blood:	n/a	chr19:51308223-51308235
26	POLR2A	chr19:51306458-51308608	K562	blood:	n/a	n/a
27	CREB1	chr19:51307357-51308721	HepG2	liver:	n/a	n/a
28	MAX	chr19:51307338-51308613	H1-hESC	embryonic stem cell:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51308329-51308340
29	POLR2A	chr19:51305452-51308828	K562	blood:	n/a	n/a
30	POLR2A	chr19:51306040-51308744	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr19:51305338-51308648	GM12891	blood:	n/a	n/a
32	HCFC1	chr19:51306626-51308827	Hela-S3	cervix:	n/a	n/a
33	MAX	chr19:51306988-51308725	HCT-116	colon:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
34	POLR2A	chr19:51307537-51308647	SK-N-SH	brain:	n/a	n/a
35	STAT3	chr19:51307800-51308668	MCF10A-Er-Src	breast:	n/a	chr19:51308657-51308668
36	SIN3A	chr19:51306827-51308654	GM12878	blood:	n/a	chr19:51308310-51308323 chr19:51308329-51308338
37	CEBPB	chr19:51307684-51308644	K562	blood:	n/a	chr19:51307784-51307796
38	TBL1XR1	chr19:51308579-51308710	K562	blood:	n/a	n/a
39	CHD2	chr19:51307675-51308627	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:51306175-51308727	IMR90	lung:	n/a	n/a
41	POLR2A	chr19:51306020-51308604	HUVEC	blood vessel:	n/a	n/a
42	MAZ	chr19:51306920-51308878	IMR90	lung:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
43	MYC	chr19:51306884-51308641	K562	blood:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
44	POLR2A	chr19:51306874-51308642	PBDE	blood:	n/a	n/a
45	NFIC	chr19:51307490-51308619	GM12878	blood:	n/a	n/a
46	CREB1	chr19:51307573-51308669	K562	blood:	n/a	n/a
47	ELK1	chr19:51307680-51308630	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr19:51307422-51308604	H1-neurons	neurons:	n/a	n/a
49	TEAD4	chr19:51307418-51308717	K562	blood:	n/a	n/a
50	CEBPB	chr19:51307627-51308608	MCF-7	breast:	n/a	chr19:51307784-51307796

No.	Distal block	Cell Line	Cell type
1	chr19:51225685..51229614-chr19:51306371..51310193,7	MCF-7	breast:
2	chr19:51308172..51309760-chr19:51328581..51330697,2	MCF-7	breast:
3	chr19:51306849..51308707-chr19:51324714..51327546,2	MCF-7	breast:
4	chr19:50878289..50880426-chr19:51306206..51308776,2	K562	blood:
5	chr19:51225811..51229710-chr19:51304326..51309315,7	K562	blood:
6	chr19:51306828..51309257-chr19:51411309..51414080,2	MCF-7	breast:
7	chr19:51306795..51309015-chr19:51522024..51524887,2	K562	blood:
8	chr19:51306219..51311443-chr19:51320268..51326410,9	MCF-7	breast:
9	chr12:96793648..96794758-chr19:51307794..51308653,3	Hela-S3	cervix:
10	chr19:51306448..51310717-chr19:51372415..51375235,4	K562	blood:
11	chr19:51306173..51309320-chr19:51331029..51336004,5	MCF-7	breast:
12	chr19:50878669..50883054-chr19:51306301..51308717,4	MCF-7	breast:
13	chr19:51305954..51309003-chr19:51339405..51341608,4	K562	blood:

Variant related genes	Relation type
C19orf48	TF binding region
SNORD88C	TF binding region
ENSG00000167751	Chromatin interaction
ENSG00000167749	Chromatin interaction
ENSG00000180279	Chromatin interaction
ENSG00000105472	Chromatin interaction
ENSG00000129451	Chromatin interaction
ENSG00000131408	Chromatin interaction
ENSG00000167748	Chromatin interaction
ENSG00000174562	Chromatin interaction
ENSG00000059758	Chromatin interaction
ENSG00000267968	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv526232	chr19:51301230-51335943	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv519121	chr19:51308092-51332670	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51305800-51309000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:51306000-51309000	Active TSS	Colonic Mucosa	Colon
3	chr19:51306200-51308800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:51306200-51308800	Active TSS	NHLF	lung
5	chr19:51306400-51308800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr19:51306400-51308800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:51306400-51308800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:51306400-51308800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:51306400-51308800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:51306400-51308800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:51306400-51309000	Active TSS	GM12878-XiMat	blood
12	chr19:51306600-51308800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:51306600-51308800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr19:51306600-51308800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:51306600-51308800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:51306600-51308800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:51306600-51308800	Active TSS	Fetal Kidney	kidney
18	chr19:51306600-51308800	Active TSS	NH-A	brain
19	chr19:51306600-51308800	Active TSS	NHDF-Ad	bronchial
20	chr19:51306800-51308800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:51307000-51308800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr19:51307000-51308800	Active TSS	Fetal Lung	lung
23	chr19:51307000-51309000	Active TSS	K562	blood
24	chr19:51307200-51308800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:51307200-51308800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:51307200-51308800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr19:51307200-51308800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:51307200-51308800	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr19:51307200-51308800	Active TSS	Colon Smooth Muscle	Colon
30	chr19:51307200-51308800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr19:51307200-51308800	Active TSS	Fetal Muscle Trunk	muscle
32	chr19:51307200-51308800	Active TSS	Fetal Stomach	stomach
33	chr19:51307200-51308800	Active TSS	Left Ventricle	heart
34	chr19:51307200-51308800	Active TSS	Psoas Muscle	Psoas
35	chr19:51307200-51308800	Active TSS	Right Atrium	heart
36	chr19:51307200-51308800	Active TSS	Right Ventricle	heart
37	chr19:51307200-51308800	Active TSS	HUVEC	blood vessel
38	chr19:51307200-51308800	Active TSS	Osteobl	bone
39	chr19:51307200-51309000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr19:51307200-51309000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:51307200-51309000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:51307200-51309000	Active TSS	A549	lung
43	chr19:51307400-51308800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:51307400-51308800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr19:51307400-51308800	Active TSS	Brain Anterior Caudate	brain
46	chr19:51307400-51308800	Active TSS	Brain Hippocampus Middle	brain
47	chr19:51307400-51308800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr19:51307400-51308800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:51307400-51308800	Active TSS	Brain Substantia Nigra	brain
50	chr19:51307400-51308800	Active TSS	Fetal Brain Female	brain

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