Variant report

Variant	rs182109290
Chromosome Location	chr19:38791083-38791084
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	NFIC	chr19:38791022-38791835	SK-N-SH	brain:	n/a	n/a
2	MAX	chr19:38790981-38791812	HCT-116	colon:	n/a	n/a
3	GATA3	chr19:38791023-38791924	MCF-7	breast:	n/a	chr19:38791414-38791423
4	FOSL2	chr19:38790920-38791899	A549	lung:	n/a	chr19:38791412-38791423 chr19:38791341-38791352 chr19:38791339-38791350 chr19:38791409-38791420 chr19:38791413-38791421 chr19:38791338-38791350 chr19:38791339-38791348 chr19:38791340-38791349 chr19:38791339-38791349
5	POLR2A	chr19:38790918-38797378	PANC-1	pancreas:	n/a	n/a
6	MAX	chr19:38790957-38791858	HCT-116	colon:	n/a	n/a
7	TCF12	chr19:38791028-38791885	ECC-1	luminal epithelium:	n/a	n/a
8	RAD21	chr19:38791082-38791836	A549	lung:	n/a	n/a
9	CBX3	chr19:38790999-38791864	HCT-116	colon:	n/a	n/a
10	CTCF	chr19:38790984-38791990	A549	lung:	n/a	n/a
11	JUND	chr19:38791055-38791842	MCF-7	breast:	n/a	chr19:38791341-38791352 chr19:38791409-38791420 chr19:38791413-38791421 chr19:38791411-38791422 chr19:38791338-38791350 chr19:38791339-38791348 chr19:38791340-38791349 chr19:38791339-38791349
12	EP300	chr19:38790945-38791979	A549	lung:	n/a	n/a
13	FOSL2	chr19:38790997-38791861	A549	lung:	n/a	chr19:38791412-38791423 chr19:38791341-38791352 chr19:38791339-38791350 chr19:38791409-38791420 chr19:38791413-38791421 chr19:38791338-38791350 chr19:38791339-38791348 chr19:38791340-38791349 chr19:38791339-38791349
14	CEBPB	chr19:38791048-38791859	A549	lung:	n/a	n/a
15	TEAD4	chr19:38791018-38792024	A549	lung:	n/a	n/a
16	SIN3AK20	chr19:38790990-38791890	A549	lung:	n/a	n/a
17	GATA3	chr19:38791003-38792100	A549	lung:	n/a	chr19:38791414-38791423
18	RXRA	chr19:38791036-38791789	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr19:38791035-38791806	ECC-1	luminal epithelium:	n/a	n/a
20	ATF3	chr19:38791075-38791857	A549	lung:	n/a	n/a
21	BCL3	chr19:38790948-38791875	A549	lung:	n/a	n/a
22	JUND	chr19:38791050-38791814	SK-N-SH	brain:	n/a	chr19:38791341-38791352 chr19:38791409-38791420 chr19:38791413-38791421 chr19:38791411-38791422 chr19:38791338-38791350 chr19:38791339-38791348 chr19:38791340-38791349 chr19:38791339-38791349
23	SIX5	chr19:38790811-38792025	A549	lung:	n/a	n/a
24	CBX3	chr19:38791023-38791863	HCT-116	colon:	n/a	n/a
25	SIN3AK20	chr19:38791021-38791857	HCT-116	colon:	n/a	n/a
26	TCF12	chr19:38790965-38791885	A549	lung:	n/a	n/a
27	SIN3AK20	chr19:38790991-38791885	A549	lung:	n/a	n/a
28	EP300	chr19:38791033-38791845	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr19:38791056-38791842	MCF-7	breast:	n/a	chr19:38791414-38791423
30	SP1	chr19:38790925-38792037	HCT-116	colon:	n/a	n/a
31	FOSL1	chr19:38791048-38791851	HCT-116	colon:	n/a	chr19:38791341-38791352 chr19:38791409-38791420 chr19:38791413-38791421 chr19:38791338-38791350 chr19:38791339-38791348 chr19:38791340-38791349 chr19:38791339-38791349
32	MAX	chr19:38791038-38791861	ECC-1	luminal epithelium:	n/a	n/a
33	BCL3	chr19:38790918-38792043	A549	lung:	n/a	n/a
34	NR2F2	chr19:38791013-38791891	MCF-7	breast:	n/a	n/a
35	GABPA	chr19:38791038-38791823	A549	lung:	n/a	n/a
36	GABPA	chr19:38791019-38791795	A549	lung:	n/a	n/a
37	TCF12	chr19:38791054-38792100	MCF-7	breast:	n/a	n/a
38	JUND	chr19:38791040-38791878	HCT-116	colon:	n/a	chr19:38791341-38791352 chr19:38791409-38791420 chr19:38791413-38791421 chr19:38791411-38791422 chr19:38791338-38791350 chr19:38791339-38791348 chr19:38791340-38791349 chr19:38791339-38791349
39	USF1	chr19:38791020-38791853	A549	lung:	n/a	n/a
40	SP1	chr19:38790910-38792004	A549	lung:	n/a	n/a
41	RCOR1	chr19:38790933-38791885	IMR90	lung:	n/a	n/a
42	FOSL1	chr19:38790944-38791882	HCT-116	colon:	n/a	chr19:38791341-38791352 chr19:38791409-38791420 chr19:38791413-38791421 chr19:38791338-38791350 chr19:38791339-38791348 chr19:38791340-38791349 chr19:38791339-38791349
43	JUND	chr19:38791026-38791957	A549	lung:	n/a	chr19:38791341-38791352 chr19:38791409-38791420 chr19:38791413-38791421 chr19:38791411-38791422 chr19:38791338-38791350 chr19:38791339-38791348 chr19:38791340-38791349 chr19:38791339-38791349
44	TEAD4	chr19:38791044-38791866	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr19:38790968-38797461	PANC-1	pancreas:	n/a	n/a
46	FOXA2	chr19:38791017-38791978	A549	lung:	n/a	n/a
47	EP300	chr19:38791015-38791995	A549	lung:	n/a	n/a
48	REST	chr19:38790933-38791954	A549	lung:	n/a	chr19:38791395-38791408
49	FOSL2	chr19:38791034-38791728	MCF-7	breast:	n/a	chr19:38791412-38791423 chr19:38791341-38791352 chr19:38791339-38791350 chr19:38791409-38791420 chr19:38791413-38791421 chr19:38791338-38791350 chr19:38791339-38791348 chr19:38791340-38791349 chr19:38791339-38791349
50	GATA3	chr19:38791072-38791432	T-47D	breast:	n/a	chr19:38791414-38791423

No.	Distal block	Cell Line	Cell type
1	chr19:38753031..38764322-chr19:38787496..38798494,54	MCF-7	breast:
2	chr19:13262824..13265095-chr19:38789559..38791383,2	MCF-7	breast:
3	chr19:38765937..38769216-chr19:38788492..38791727,3	MCF-7	breast:
4	chr19:38786777..38792864-chr19:38793393..38797878,11	K562	blood:

Variant related genes	Relation type
C19orf33	TF binding region
ENSG00000267598	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000167642	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38765800-38794800	Weak transcription	Small Intestine	intestine
2	chr19:38769200-38791200	Weak transcription	Fetal Kidney	kidney
3	chr19:38769400-38795200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
5	chr19:38777000-38791200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:38781000-38794400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr19:38781200-38795800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:38781200-38805800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:38781400-38795400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr19:38781400-38797800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:38781600-38795600	Weak transcription	Right Ventricle	heart
12	chr19:38782000-38806000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:38782200-38791200	Weak transcription	NHDF-Ad	bronchial
14	chr19:38782400-38798000	Weak transcription	Fetal Thymus	thymus
15	chr19:38782600-38796400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr19:38782800-38791200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:38782800-38791200	Weak transcription	Stomach Mucosa	stomach
18	chr19:38783000-38794200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:38783000-38795600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:38783200-38794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:38783400-38797000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr19:38783600-38791400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:38783600-38795200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:38784000-38791200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:38784000-38794600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:38784000-38797200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:38784000-38805800	Weak transcription	Primary B cells from cord blood	blood
28	chr19:38784200-38791200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:38784200-38791200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:38784200-38793400	Weak transcription	Lung	lung
31	chr19:38784200-38794200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr19:38784200-38794400	Weak transcription	Thymus	Thymus
33	chr19:38784400-38791200	Weak transcription	Pancreas	Pancrea
34	chr19:38784400-38794400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr19:38785200-38791200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:38785200-38795200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:38785200-38795400	Weak transcription	Primary T cells from cord blood	blood
38	chr19:38785200-38795400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:38785400-38791200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:38785400-38791200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:38785400-38791400	Weak transcription	Spleen	Spleen
42	chr19:38785400-38794200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr19:38785400-38794400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:38785400-38794600	Weak transcription	Brain Substantia Nigra	brain
45	chr19:38785400-38794800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:38785400-38795400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:38785400-38797000	Weak transcription	Brain Anterior Caudate	brain
48	chr19:38785600-38791200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr19:38785600-38794400	Weak transcription	Brain Angular Gyrus	brain
50	chr19:38785600-38794800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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