Variant report

Variant	rs372003050
Chromosome Location	chr19:39921910-39921911
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	POLR2A	chr19:39921090-39922499	HCT-116	colon:	n/a	n/a
2	CEBPB	chr19:39921316-39921943	A549	lung:	n/a	n/a
3	POLR2A	chr19:39921548-39922187	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:39921184-39922223	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:39921310-39922489	SK-N-SH	brain:	n/a	n/a
6	GTF2F1	chr19:39921658-39921912	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:39920860-39927633	U87	brain:	n/a	n/a
8	POLR2A	chr19:39921133-39922287	U87	brain:	n/a	n/a
9	MYC	chr19:39920994-39922984	A549	lung:	n/a	chr19:39921744-39921754 chr19:39921458-39921467 chr19:39922371-39922381
10	JUND	chr19:39921086-39922488	A549	lung:	n/a	chr19:39921458-39921466 chr19:39921457-39921466 chr19:39921456-39921467 chr19:39921454-39921465 chr19:39921459-39921466 chr19:39921458-39921467 chr19:39922370-39922379 chr19:39922373-39922382 chr19:39922371-39922380
11	MAX	chr19:39921346-39921992	SK-N-SH	brain:	n/a	chr19:39921744-39921754 chr19:39921458-39921467
12	POLR2A	chr19:39921527-39922230	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr19:39921036-39927449	GM12878	blood:	n/a	n/a
14	CHD2	chr19:39921274-39922112	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:39920920-39927829	PFSK-1	brain:	n/a	n/a
16	JUND	chr19:39920490-39925442	A549	lung:	n/a	chr19:39921458-39921466 chr19:39924892-39924906 chr19:39921457-39921466 chr19:39921456-39921467 chr19:39921454-39921465 chr19:39921459-39921466 chr19:39921458-39921467 chr19:39922370-39922379 chr19:39922373-39922382 chr19:39922371-39922380
17	GABPA	chr19:39921014-39922071	A549	lung:	n/a	n/a
18	BHLHE40	chr19:39921334-39921916	K562	blood:	n/a	n/a
19	MYC	chr19:39921344-39922011	NB4	blood:	n/a	chr19:39921744-39921754 chr19:39921458-39921467
20	POLR2A	chr19:39921318-39922177	A549	lung:	n/a	n/a
21	POLR2A	chr19:39920391-39924937	HepG2	liver:	n/a	n/a
22	TBL1XR1	chr19:39921375-39922183	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:39921224-39922324	GM18505	blood:	n/a	n/a
24	PBX3	chr19:39921224-39922078	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr19:39921189-39922473	GM12878	blood:	n/a	n/a
26	ARID3A	chr19:39921284-39922065	K562	blood:	n/a	n/a
27	FOS	chr19:39921284-39921922	MCF10A-Er-Src	breast:	n/a	chr19:39921458-39921466 chr19:39921457-39921466 chr19:39921456-39921467 chr19:39921454-39921465 chr19:39921459-39921466 chr19:39921458-39921467
28	USF1	chr19:39921131-39922115	A549	lung:	n/a	n/a
29	JUND	chr19:39921167-39922290	SK-N-SH	brain:	n/a	chr19:39921458-39921466 chr19:39921457-39921466 chr19:39921456-39921467 chr19:39921454-39921465 chr19:39921459-39921466 chr19:39921458-39921467
30	MAX	chr19:39921085-39922221	A549	lung:	n/a	chr19:39921744-39921754 chr19:39921458-39921467
31	POLR2A	chr19:39921168-39927547	K562	blood:	n/a	n/a
32	CHD1	chr19:39921829-39922047	GM12878	blood:	n/a	n/a
33	USF1	chr19:39921295-39922050	K562	blood:	n/a	n/a
34	ZMIZ1	chr19:39921262-39922120	K562	blood:	n/a	n/a
35	RCOR1	chr19:39921054-39922186	IMR90	lung:	n/a	n/a
36	FOXA2	chr19:39921184-39922001	A549	lung:	n/a	n/a
37	FOXP2	chr19:39921515-39922048	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr19:39920942-39925617	GM12892	blood:	n/a	n/a
39	POLR2A	chr19:39920975-39927064	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:39886400-39939626	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr19:39921179-39922264	K562	blood:	n/a	n/a
42	TCF12	chr19:39921117-39922183	A549	lung:	n/a	chr19:39921368-39921375
43	FOSL2	chr19:39920935-39922296	A549	lung:	n/a	chr19:39921458-39921466 chr19:39921457-39921466 chr19:39921454-39921465 chr19:39921459-39921466 chr19:39921458-39921467
44	CREB1	chr19:39921118-39922184	K562	blood:	n/a	n/a
45	POLR2A	chr19:39920712-39925660	IMR90	lung:	n/a	n/a
46	MAX	chr19:39921550-39921957	H1-hESC	embryonic stem cell:	n/a	chr19:39921744-39921754
47	USF1	chr19:39921262-39922067	A549	lung:	n/a	n/a
48	MAX	chr19:39921488-39922033	H1-hESC	embryonic stem cell:	n/a	chr19:39921744-39921754
49	RFX5	chr19:39921231-39921990	Hela-S3	cervix:	n/a	n/a
50	TAF1	chr19:39921115-39922033	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39921832..39923691-chr19:39996313..39998056,2	K562	blood:
2	chr19:39921585..39922257-chr20:633556..634300,2	Hela-S3	cervix:
3	chr19:39921621..39923975-chr19:39932520..39935648,3	MCF-7	breast:
4	chr17:75136137..75136647-chr19:39921438..39922065,2	Hela-S3	cervix:
5	chr19:39915714..39918595-chr19:39919774..39922739,3	MCF-7	breast:
6	chr19:39921200..39923671-chr19:40028899..40031832,2	K562	blood:
7	chr11:65266097..65266667-chr19:39921578..39922085,2	Hela-S3	cervix:
8	chr19:39921622..39923186-chr19:39964925..39966961,2	K562	blood:
9	chr1:17231264..17231878-chr19:39921645..39922367,2	Hela-S3	cervix:

Variant related genes	Relation type
SUPT5H	TF binding region
ENSG00000251562	Chromatin interaction
ENSG00000176396	Chromatin interaction
ENSG00000269410	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000271303	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv911683	chr19:39847132-39924129	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
5	nsv911684	chr19:39886218-39923863	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
6	nsv911685	chr19:39888449-39948779	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
10	esv1791966	chr19:39921479-39954931	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 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	chr19:39904800-39925800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39905400-39923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:39905800-39923000	Weak transcription	Brain Anterior Caudate	brain
4	chr19:39905800-39923000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:39910000-39922600	Weak transcription	Liver	Liver
6	chr19:39911400-39923400	Weak transcription	Fetal Brain Male	brain
7	chr19:39913800-39922800	Weak transcription	Psoas Muscle	Psoas
8	chr19:39915400-39923000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:39916800-39923000	Weak transcription	Dnd41	blood
10	chr19:39917400-39922800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:39917400-39923000	Weak transcription	Brain Angular Gyrus	brain
12	chr19:39917400-39923000	Weak transcription	Brain Substantia Nigra	brain
13	chr19:39918000-39922200	Enhancers	Placenta	Placenta
14	chr19:39919600-39922000	Weak transcription	Aorta	Aorta
15	chr19:39919600-39923000	Weak transcription	Pancreas	Pancrea
16	chr19:39919600-39923200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:39919600-39925000	Weak transcription	Right Atrium	heart
18	chr19:39919800-39922800	Weak transcription	Fetal Intestine Large	intestine
19	chr19:39919800-39923000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:39919800-39923000	Weak transcription	Left Ventricle	heart
21	chr19:39919800-39923200	Weak transcription	HMEC	breast
22	chr19:39919800-39923600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:39919800-39923600	Weak transcription	Fetal Kidney	kidney
24	chr19:39919800-39924800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr19:39920000-39922800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:39920000-39923000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:39920000-39923000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:39920000-39923000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:39920000-39923000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:39920000-39923000	Weak transcription	HSMMtube	muscle
31	chr19:39920000-39923200	Weak transcription	Ovary	ovary
32	chr19:39920000-39923400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:39920000-39923400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr19:39920000-39924200	Weak transcription	Fetal Heart	heart
35	chr19:39920200-39923200	Weak transcription	Fetal Lung	lung
36	chr19:39921000-39922000	Enhancers	Small Intestine	intestine
37	chr19:39921000-39922000	Enhancers	Stomach Mucosa	stomach
38	chr19:39921000-39922200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr19:39921000-39922200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:39921000-39922200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr19:39921000-39922200	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr19:39921000-39922200	Flanking Active TSS	Hela-S3	cervix
43	chr19:39921000-39922600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:39921200-39922000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:39921200-39922000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr19:39921200-39922000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr19:39921200-39922000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr19:39921200-39922000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr19:39921200-39922000	Flanking Active TSS	GM12878-XiMat	blood
50	chr19:39921200-39922000	Enhancers	HSMM	muscle

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