Variant report

Variant	rs542754171
Chromosome Location	chr19:40776493-40776494
allele	A/G
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	CTCF	chr19:40776440-40776590	K562	blood:	n/a	n/a
2	POLR2A	chr19:40775474-40776522	GM12878	blood:	n/a	n/a
3	ZNF143	chr19:40776392-40776639	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr19:40776452-40776639	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr19:40776369-40776697	H1-hESC	embryonic stem cell:	n/a	chr19:40776527-40776539 chr19:40776477-40776491
6	CTCF	chr19:40776393-40776839	K562	blood:	n/a	n/a
7	CTCF	chr19:40776440-40776646	K562	blood:	n/a	n/a
8	CTCF	chr19:40776418-40776709	K562	blood:	n/a	n/a
9	CTCF	chr19:40776480-40776630	HCPEpiC	choroid plexus:	n/a	n/a
10	JUND	chr19:40776453-40776709	K562	blood:	n/a	n/a
11	RAD21	chr19:40776402-40776619	HepG2	liver:	n/a	chr19:40776527-40776539 chr19:40776477-40776491
12	RAD21	chr19:40776327-40776637	K562	blood:	n/a	chr19:40776527-40776539 chr19:40776477-40776491
13	TBL1XR1	chr19:40776387-40776535	K562	blood:	n/a	n/a
14	CTCF	chr19:40776374-40776734	K562	blood:	n/a	n/a
15	CTCF	chr19:40776384-40776715	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr19:40776292-40776672	H1-hESC	embryonic stem cell:	n/a	chr19:40776527-40776539 chr19:40776477-40776491
17	MAZ	chr19:40776387-40776660	K562	blood:	n/a	n/a
18	MYC	chr19:40776399-40776604	K562	blood:	n/a	n/a
19	CTCF	chr19:40776420-40776570	WERI-Rb-1	eye:	n/a	n/a
20	ELF1	chr19:40776268-40776712	K562	blood:	n/a	n/a
21	CTCF	chr19:40776480-40776630	K562	blood:	n/a	n/a
22	ZNF143	chr19:40776449-40776659	K562	blood:	n/a	n/a
23	CTCF	chr19:40776440-40776590	WERI-Rb-1	eye:	n/a	n/a
24	SMC3	chr19:40776401-40776603	K562	blood:	n/a	n/a
25	CTCF	chr19:40776400-40776725	K562	blood:	n/a	n/a
26	RCOR1	chr19:40776384-40776663	K562	blood:	n/a	n/a
27	CTCF	chr19:40776376-40776625	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr19:40776345-40776629	H1-hESC	embryonic stem cell:	n/a	chr19:40776527-40776539 chr19:40776477-40776491
29	CTCF	chr19:40776480-40776630	HBMEC	blood vessel:	n/a	n/a
30	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
31	TBP	chr19:40776459-40776774	K562	blood:	n/a	n/a
32	CTCF	chr19:40776436-40776638	Medullo	brain:	n/a	n/a
33	RAD21	chr19:40776455-40776605	K562	blood:	n/a	chr19:40776527-40776539 chr19:40776477-40776491

No.	Distal block	Cell Line	Cell type
1	chr19:40776468..40779839-chr19:40784717..40787633,5	MCF-7	breast:
2	chr19:40770481..40772610-chr19:40774016..40777021,3	K562	blood:
3	chr19:40774152..40777118-chr19:40779107..40782198,3	MCF-7	breast:

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000205041	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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1063993	chr19:40763787-40781360	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1059884	chr19:40763839-40781360	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1057052	chr19:40776128-40789766	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40759800-40780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40762000-40779800	Weak transcription	Stomach Mucosa	stomach
3	chr19:40762800-40777600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
5	chr19:40763600-40777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:40763800-40777600	Weak transcription	Hela-S3	cervix
7	chr19:40763800-40777600	Weak transcription	HMEC	breast
8	chr19:40765400-40777800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
10	chr19:40766800-40776600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:40767600-40779600	Strong transcription	Fetal Stomach	stomach
12	chr19:40767800-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:40768200-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:40769000-40776600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr19:40769000-40778200	Weak transcription	HSMM	muscle
16	chr19:40769000-40779600	Strong transcription	Fetal Intestine Small	intestine
17	chr19:40769400-40777400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:40769600-40783600	Weak transcription	Fetal Kidney	kidney
19	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
23	chr19:40770400-40784000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:40771000-40777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:40771000-40780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:40771000-40780800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr19:40771000-40783600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:40771200-40777600	Weak transcription	Osteobl	bone
29	chr19:40771200-40778000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr19:40771400-40776600	Enhancers	Pancreas	Pancrea
31	chr19:40771400-40776800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:40771400-40778200	Enhancers	Left Ventricle	heart
33	chr19:40771400-40779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
35	chr19:40771600-40778000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr19:40771600-40780400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:40771600-40786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:40772000-40776800	Enhancers	Brain Cingulate Gyrus	brain
39	chr19:40772000-40778200	Weak transcription	Dnd41	blood
40	chr19:40773200-40777400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:40773600-40779600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:40773800-40780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:40774200-40776800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:40774200-40778200	Weak transcription	Colonic Mucosa	Colon
45	chr19:40774400-40776600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:40774400-40776600	Strong transcription	Lung	lung
47	chr19:40774400-40776600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:40774400-40777400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr19:40774400-40778400	Strong transcription	NHEK	skin
50	chr19:40774400-40778800	Strong transcription	Duodenum Mucosa	Duodenum

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