Variant report

Variant	rs529943876
Chromosome Location	chr19:40005532-40005533
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	SIN3A	chr19:40005278-40006947	H1-hESC	embryonic stem cell:	n/a	chr19:40006693-40006706
2	CTCF	chr19:40005435-40005565	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr19:40005527-40006265	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr19:40003820-40007253	PANC-1	pancreas:	n/a	chr19:40006697-40006706
5	CTCF	chr19:40005480-40005630	GM12866	blood:	n/a	n/a
6	CREB1	chr19:40005353-40006395	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr19:40005428-40006261	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF263	chr19:40005149-40005727	HEK293-T-REx	kidney:	n/a	n/a
9	MAX	chr19:40005515-40006511	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr19:40005460-40006565	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr19:40005477-40006309	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:40005420-40005570	GM12864	blood:	n/a	n/a
13	CTCF	chr19:40005520-40005901	K562	blood:	n/a	n/a
14	RAD21	chr19:40005286-40006191	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr19:40002596-40007321	PANC-1	pancreas:	n/a	n/a
16	CTBP2	chr19:40005508-40006510	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr19:40005105-40006369	A549	lung:	n/a	n/a
18	TCF12	chr19:40005273-40006380	A549	lung:	n/a	chr19:40005712-40005722
19	POLR2A	chr19:40005507-40005576	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP1	chr19:40005426-40006462	H1-hESC	embryonic stem cell:	n/a	chr19:40005662-40005671
21	E2F6	chr19:40005428-40006313	H1-hESC	embryonic stem cell:	n/a	chr19:40005662-40005674
22	POLR2A	chr19:40005446-40007191	H1-hESC	embryonic stem cell:	n/a	n/a
23	GTF2F1	chr19:40005444-40006226	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr19:40005500-40005650	A549	lung:	n/a	n/a
25	SP4	chr19:40005395-40006428	H1-hESC	embryonic stem cell:	n/a	chr19:40005657-40005673
26	E2F6	chr19:40005393-40006421	H1-hESC	embryonic stem cell:	n/a	chr19:40005662-40005674
27	JUND	chr19:40005467-40006661	H1-hESC	embryonic stem cell:	n/a	chr19:40005806-40005815
28	ZBTB7A	chr19:40005501-40006415	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39987217..39989716-chr19:40005337..40006880,2	MCF-7	breast:
2	chr19:39935872..39937858-chr19:40003816..40005942,2	MCF-7	breast:
3	chr19:39926370..39927938-chr19:40004340..40006529,2	K562	blood:

Variant related genes	Relation type
ENSG00000186838	TF binding region
ENSG00000196235	Chromatin interaction
ENSG00000090932	Chromatin interaction
ENSG00000105193	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	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS 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 lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv3374976	chr19:39998161-40023263	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv522811	chr19:40004640-40008220	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40005200-40005600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
2	chr19:40005200-40005600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:40005200-40005600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:40005200-40005600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:40005200-40005600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr19:40005200-40005600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr19:40005200-40005600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr19:40005200-40005600	Bivalent Enhancer	Brain Hippocampus Middle	brain
9	chr19:40005200-40005600	Bivalent Enhancer	Fetal Brain Female	brain
10	chr19:40005200-40005600	Bivalent Enhancer	Fetal Stomach	stomach
11	chr19:40005200-40005800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:40005200-40006000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
13	chr19:40005200-40006600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr19:40005200-40007200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:40005200-40007400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr19:40005200-40007800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr19:40005400-40005600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:40005400-40005600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:40005400-40005600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
25	chr19:40005400-40005600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr19:40005400-40005600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
28	chr19:40005400-40005600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:40005400-40005600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:40005400-40005600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:40005400-40005600	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
33	chr19:40005400-40005600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
35	chr19:40005400-40005600	Bivalent Enhancer	Colonic Mucosa	Colon
36	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
37	chr19:40005400-40005600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
38	chr19:40005400-40005600	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr19:40005400-40005600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr19:40005400-40005600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr19:40005400-40005600	Enhancers	Pancreas	Pancrea
42	chr19:40005400-40005600	Enhancers	Right Atrium	heart
43	chr19:40005400-40005600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
44	chr19:40005400-40005600	Bivalent/Poised TSS	Thymus	Thymus
45	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	A549	lung
46	chr19:40005400-40005600	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr19:40005400-40005800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:40005400-40005800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:40005400-40005800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:40005400-40005800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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