Variant report

Variant	rs30459
Chromosome Location	chr19:39833253-39833254
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	CREB1	chr19:39832262-39833319	K562	blood:	n/a	n/a
2	CREB1	chr19:39832084-39833374	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:39832926-39833346	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:39832824-39833316	A549	lung:	n/a	n/a
5	SP1	chr19:39832110-39833355	HCT-116	colon:	n/a	chr19:39832780-39832790 chr19:39832867-39832876 chr19:39832791-39832800 chr19:39832790-39832802 chr19:39832627-39832636 chr19:39832779-39832791 chr19:39832626-39832635 chr19:39832868-39832877 chr19:39832780-39832794 chr19:39832779-39832791 chr19:39832791-39832805 chr19:39832780-39832790 chr19:39832866-39832878 chr19:39832625-39832637 chr19:39832780-39832789 chr19:39832792-39832801 chr19:39832627-39832636 chr19:39832781-39832790 chr19:39832866-39832878 chr19:39832779-39832790 chr19:39832780-39832789 chr19:39832791-39832800 chr19:39832790-39832801
6	POLR2A	chr19:39833030-39833325	IMR90	lung:	n/a	n/a
7	CREB1	chr19:39832227-39833269	HepG2	liver:	n/a	n/a
8	HCFC1	chr19:39832043-39833341	Hela-S3	cervix:	n/a	n/a
9	ZBTB7A	chr19:39833248-39833970	ECC-1	luminal epithelium:	n/a	n/a
10	HEY1	chr19:39832961-39833355	HepG2	liver:	n/a	n/a
11	CREB1	chr19:39832466-39833300	H1-hESC	embryonic stem cell:	n/a	n/a
12	PBX3	chr19:39832391-39833290	SK-N-SH	brain:	n/a	n/a
13	JUN	chr19:39831847-39833851	K562	blood:	n/a	chr19:39832793-39832802
14	PBX3	chr19:39832263-39833301	SK-N-SH	brain:	n/a	n/a
15	MXI1	chr19:39831704-39834033	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr19:39831704-39833403	H1-neurons	neurons:	n/a	n/a
17	TAF1	chr19:39832372-39833270	HepG2	liver:	n/a	n/a
18	ZBTB7A	chr19:39833248-39833884	K562	blood:	n/a	n/a
19	POLR2A	chr19:39832274-39833306	GM15510	blood:	n/a	n/a
20	MAZ	chr19:39832004-39833295	K562	blood:	n/a	chr19:39832865-39832875 chr19:39832862-39832872 chr19:39832756-39832765 chr19:39832838-39832847
21	ZBTB7A	chr19:39833211-39833948	ECC-1	luminal epithelium:	n/a	n/a
22	CREB1	chr19:39832008-39833292	GM12878	blood:	n/a	n/a
23	HMGN3	chr19:39832456-39833593	K562	blood:	n/a	n/a
24	POLR2A	chr19:39832922-39833317	K562	blood:	n/a	n/a
25	POLR2A	chr19:39832198-39833449	A549	lung:	n/a	n/a
26	POLR2A	chr19:39831807-39833397	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr19:39832081-39833318	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr19:39833035-39833282	MCF-7	breast:	n/a	n/a
29	YY1	chr19:39832397-39833276	HepG2	liver:	n/a	chr19:39832956-39832970 chr19:39832792-39832801 chr19:39832797-39832808
30	POLR2A	chr19:39831943-39833324	HUVEC	blood vessel:	n/a	n/a
31	TAF1	chr19:39832137-39833290	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr19:39831278-39833917	A549	lung:	n/a	chr19:39832865-39832875 chr19:39833668-39833678 chr19:39832862-39832872 chr19:39832756-39832765 chr19:39832838-39832847
33	PAX5	chr19:39832427-39833260	GM12892	blood:	n/a	n/a
34	POLR2A	chr19:39832934-39833279	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr19:39831752-39833321	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:39833106-39833262	K562	blood:	n/a	n/a
37	POLR2A	chr19:39832958-39833328	ECC-1	luminal epithelium:	n/a	n/a
38	ZBTB7A	chr19:39832435-39833860	K562	blood:	n/a	chr19:39832625-39832632 chr19:39832784-39832791
39	POLR2A	chr19:39832336-39833319	GM18951	blood:	n/a	n/a
40	POLR2A	chr19:39831888-39833408	MCF-7	breast:	n/a	n/a
41	POLR2A	chr19:39833101-39833313	MCF-7	breast:	n/a	n/a
42	MAZ	chr19:39831350-39834239	IMR90	lung:	n/a	chr19:39832865-39832875 chr19:39833668-39833678 chr19:39832862-39832872 chr19:39832756-39832765 chr19:39832838-39832847
43	CREB1	chr19:39832395-39833541	A549	lung:	n/a	n/a
44	POLR2A	chr19:39832334-39833269	GM12892	blood:	n/a	n/a
45	ELF1	chr19:39832344-39833297	K562	blood:	n/a	n/a
46	JUND	chr19:39831794-39833840	A549	lung:	n/a	chr19:39832793-39832802
47	REST	chr19:39831318-39834372	PANC-1	pancreas:	n/a	chr19:39832957-39832970 chr19:39833520-39833533
48	CHD1	chr19:39831630-39834716	IMR90	lung:	n/a	chr19:39832940-39832950 chr19:39832779-39832789
49	CEBPD	chr19:39832334-39833277	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr19:39831291-39835344	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39831356..39834540-chr19:39880141..39881911,4	MCF-7	breast:
2	chr19:39832559..39836457-chr19:39880660..39884768,5	MCF-7	breast:
3	chr19:39831465..39834764-chr19:39935836..39937934,3	K562	blood:
4	chr19:39614928..39617634-chr19:39831535..39834253,2	K562	blood:
5	chr19:39831462..39833819-chr19:39895852..39900331,6	MCF-7	breast:
6	chr19:39831269..39834563-chr19:39900586..39904953,4	MCF-7	breast:
7	chr17:58602101..58603865-chr19:39833012..39834515,2	MCF-7	breast:
8	chr19:39829936..39834375-chr19:39901478..39904741,5	MCF-7	breast:
9	chr19:39830889..39835466-chr19:39836647..39841099,6	MCF-7	breast:
10	chr19:39832709..39837239-chr19:39925090..39928725,4	K562	blood:
11	chr19:39830669..39836861-chr19:39895802..39900887,6	MCF-7	breast:
12	chr19:39811372..39812878-chr19:39831167..39833886,2	MCF-7	breast:
13	chr19:39828912..39834348-chr19:39896525..39904623,14	K562	blood:
14	chr19:39826340..39829691-chr19:39831267..39834495,5	K562	blood:
15	chr19:39809900..39813494-chr19:39831059..39834441,3	MCF-7	breast:
16	chr19:39832183..39834517-chr19:39925160..39926923,2	MCF-7	breast:
17	chr19:39727142..39728696-chr19:39832975..39834941,2	K562	blood:

Variant related genes	Relation type
ENSG00000269246	TF binding region
GMFG	TF binding region
ENSG00000259349	Chromatin interaction
ENSG00000268262	Chromatin interaction
ENSG00000063322	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000268510	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv10629	chr19:39811570-39886212	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv870133	chr19:39822160-39938468	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	esv3322501	chr19:39831637-39834485	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
10	esv3350319	chr19:39831712-39835310	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	esv3359345	chr19:39832262-39834360	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	21 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	chr19:39831400-39834200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:39831400-39834400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:39831600-39833600	Active TSS	Thymus	Thymus
4	chr19:39831600-39834000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:39831600-39834000	Active TSS	NHLF	lung
6	chr19:39831600-39834400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:39831800-39833600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:39831800-39833600	Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr19:39831800-39833600	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr19:39831800-39833600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:39831800-39833600	Active TSS	Monocytes-CD14+_RO01746	blood
12	chr19:39831800-39833800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:39831800-39833800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:39831800-39833800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:39831800-39833800	Active TSS	Aorta	Aorta
16	chr19:39831800-39833800	Active TSS	Fetal Intestine Large	intestine
17	chr19:39831800-39833800	Active TSS	Small Intestine	intestine
18	chr19:39831800-39833800	Active TSS	Dnd41	blood
19	chr19:39831800-39833800	Active TSS	GM12878-XiMat	blood
20	chr19:39831800-39833800	Active TSS	HSMMtube	muscle
21	chr19:39831800-39833800	Active TSS	K562	blood
22	chr19:39831800-39833800	Active TSS	NH-A	brain
23	chr19:39831800-39833800	Active TSS	NHEK	skin
24	chr19:39831800-39834000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:39831800-39834000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:39831800-39834000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr19:39831800-39834000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:39831800-39834000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:39831800-39834000	Active TSS	Fetal Stomach	stomach
30	chr19:39831800-39834000	Active TSS	Ovary	ovary
31	chr19:39831800-39834000	Active TSS	Osteobl	bone
32	chr19:39831800-39834200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr19:39831800-39834200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr19:39831800-39834200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:39831800-39834200	Active TSS	HMEC	breast
36	chr19:39831800-39834400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr19:39831800-39834400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:39831800-39834400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr19:39831800-39834600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:39832000-39833400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:39832000-39833400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:39832000-39833400	Active TSS	Brain Germinal Matrix	brain
43	chr19:39832000-39833600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:39832000-39833600	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr19:39832000-39833600	Active TSS	Colonic Mucosa	Colon
46	chr19:39832000-39833600	Active TSS	Fetal Muscle Trunk	muscle
47	chr19:39832000-39833600	Active TSS	Fetal Muscle Leg	muscle
48	chr19:39832000-39833600	Active TSS	Fetal Thymus	thymus
49	chr19:39832000-39833600	Active TSS	Right Atrium	heart
50	chr19:39832000-39833600	Active TSS	Right Ventricle	heart

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