Variant report

Variant	rs143944138
Chromosome Location	chr19:38720756-38720757
allele	C/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	RCOR1	chr19:38720332-38720793	K562	blood:	n/a	n/a
2	RCOR1	chr19:38720140-38721150	IMR90	lung:	n/a	n/a
3	SIX5	chr19:38720201-38721029	A549	lung:	n/a	n/a
4	UBTF	chr19:38720176-38720801	K562	blood:	n/a	n/a
5	POLR2A	chr19:38718559-38720966	H1-neurons	neurons:	n/a	n/a
6	HA-E2F1	chr19:38720265-38720886	MCF-7	breast:	n/a	chr19:38720619-38720628 chr19:38720400-38720409
7	FOSL2	chr19:38720547-38720956	A549	lung:	n/a	n/a
8	ETS1	chr19:38720377-38720770	A549	lung:	n/a	chr19:38720471-38720484 chr19:38720531-38720544 chr19:38720472-38720485
9	REST	chr19:38718508-38721161	H1-neurons	neurons:	n/a	chr19:38718827-38718837 chr19:38719471-38719484 chr19:38718636-38718649 chr19:38720543-38720556
10	POLR2A	chr19:38718631-38720930	H1-neurons	neurons:	n/a	n/a
11	TCF12	chr19:38720258-38720796	ECC-1	luminal epithelium:	n/a	n/a
12	MXI1	chr19:38720049-38720756	IMR90	lung:	n/a	n/a
13	SIN3AK20	chr19:38720165-38720835	HCT-116	colon:	n/a	n/a
14	RCOR1	chr19:38720350-38720769	GM12878	blood:	n/a	n/a
15	HDAC2	chr19:38720251-38720803	MCF-7	breast:	n/a	n/a
16	RCOR1	chr19:38720241-38720846	K562	blood:	n/a	n/a
17	ETS1	chr19:38720246-38720769	A549	lung:	n/a	chr19:38720471-38720484 chr19:38720531-38720544 chr19:38720472-38720485
18	SP1	chr19:38720112-38720893	HCT-116	colon:	n/a	chr19:38720534-38720544 chr19:38720171-38720183 chr19:38720172-38720181 chr19:38720535-38720544 chr19:38720533-38720544 chr19:38720533-38720545 chr19:38720173-38720182 chr19:38720171-38720183 chr19:38720499-38720520 chr19:38720168-38720182 chr19:38720533-38720545 chr19:38720173-38720182 chr19:38720534-38720543 chr19:38720534-38720544 chr19:38720559-38720570 chr19:38720535-38720544 chr19:38720530-38720544
19	BCL3	chr19:38720360-38720920	A549	lung:	n/a	n/a
20	IRF1	chr19:38720251-38720759	K562	blood:	n/a	chr19:38720510-38720519 chr19:38720533-38720547
21	SP1	chr19:38720167-38720857	A549	lung:	n/a	chr19:38720534-38720544 chr19:38720171-38720183 chr19:38720172-38720181 chr19:38720535-38720544 chr19:38720533-38720544 chr19:38720533-38720545 chr19:38720173-38720182 chr19:38720171-38720183 chr19:38720499-38720520 chr19:38720168-38720182 chr19:38720533-38720545 chr19:38720173-38720182 chr19:38720534-38720543 chr19:38720534-38720544 chr19:38720559-38720570 chr19:38720535-38720544 chr19:38720530-38720544
22	MAZ	chr19:38719093-38720928	IMR90	lung:	n/a	chr19:38720133-38720143 chr19:38719671-38719681
23	CHD2	chr19:38720404-38720762	K562	blood:	n/a	n/a
24	SIN3AK20	chr19:38720394-38720914	A549	lung:	n/a	n/a
25	SP1	chr19:38720279-38720811	H1-hESC	embryonic stem cell:	n/a	chr19:38720534-38720544 chr19:38720535-38720544 chr19:38720533-38720544 chr19:38720533-38720545 chr19:38720499-38720520 chr19:38720533-38720545 chr19:38720534-38720543 chr19:38720534-38720544 chr19:38720559-38720570 chr19:38720535-38720544 chr19:38720530-38720544
26	MXI1	chr19:38718532-38721022	SK-N-SH	brain:	n/a	n/a
27	SP1	chr19:38720155-38720952	A549	lung:	n/a	chr19:38720534-38720544 chr19:38720171-38720183 chr19:38720172-38720181 chr19:38720535-38720544 chr19:38720533-38720544 chr19:38720533-38720545 chr19:38720173-38720182 chr19:38720171-38720183 chr19:38720499-38720520 chr19:38720168-38720182 chr19:38720533-38720545 chr19:38720173-38720182 chr19:38720534-38720543 chr19:38720534-38720544 chr19:38720559-38720570 chr19:38720535-38720544 chr19:38720530-38720544
28	SP1	chr19:38720065-38720908	HCT-116	colon:	n/a	chr19:38720534-38720544 chr19:38720171-38720183 chr19:38720172-38720181 chr19:38720535-38720544 chr19:38720533-38720544 chr19:38720533-38720545 chr19:38720173-38720182 chr19:38720171-38720183 chr19:38720499-38720520 chr19:38720168-38720182 chr19:38720533-38720545 chr19:38720173-38720182 chr19:38720534-38720543 chr19:38720534-38720544 chr19:38720559-38720570 chr19:38720535-38720544 chr19:38720530-38720544
29	ATF3	chr19:38720409-38721016	A549	lung:	n/a	n/a
30	ZNF263	chr19:38720328-38720876	HEK293-T-REx	kidney:	n/a	n/a
31	TAF1	chr19:38720190-38720771	H1-neurons	neurons:	n/a	n/a
32	STAT5A	chr19:38720467-38720876	GM12878	blood:	n/a	chr19:38720561-38720569 chr19:38720531-38720543
33	HDAC2	chr19:38720373-38720799	K562	blood:	n/a	n/a
34	RCOR1	chr19:38720347-38720910	Hela-S3	cervix:	n/a	n/a
35	MAX	chr19:38720042-38720867	A549	lung:	n/a	chr19:38720133-38720143
36	TAF1	chr19:38719045-38720842	H1-neurons	neurons:	n/a	n/a
37	REST	chr19:38720400-38720910	A549	lung:	n/a	chr19:38720543-38720556
38	POLR2A	chr19:38720442-38720852	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38711348..38714655-chr19:38718716..38721513,3	MCF-7	breast:
2	chr19:38720504..38722100-chr19:38877148..38880133,2	K562	blood:
3	chr19:38718266..38721870-chr19:38794040..38798765,4	MCF-7	breast:
4	chr19:38705043..38707659-chr19:38719005..38721797,2	K562	blood:
5	chr19:38718989..38720789-chr19:38865301..38866855,2	MCF-7	breast:
6	chr19:38720388..38721001-chr19:38825841..38826415,2	K562	blood:
7	chr19:38719348..38721458-chr19:38874867..38876458,2	K562	blood:
8	chr19:38713393..38715847-chr19:38720638..38723523,2	K562	blood:
9	chr19:38720592..38722293-chr19:38724613..38726835,2	MCF-7	breast:

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000011332	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000267090	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3419802	chr19:38718712-38720860	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv3405182	chr19:38719137-38721685	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr19:38718000-38720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:38718400-38721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:38718600-38720800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:38718800-38720800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:38718800-38720800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:38718800-38720800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:38718800-38721000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:38718800-38721000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr19:38718800-38721200	Active TSS	Brain Germinal Matrix	brain
11	chr19:38718800-38721200	Active TSS	Fetal Brain Female	brain
12	chr19:38719200-38720800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:38719200-38720800	Active TSS	Fetal Brain Male	brain
14	chr19:38719200-38721000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr19:38719200-38721000	Active TSS	Brain Cingulate Gyrus	brain
16	chr19:38719400-38720800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:38719400-38721000	Active TSS	Brain Anterior Caudate	brain
18	chr19:38719800-38720800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:38719800-38720800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr19:38720000-38720800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:38720000-38720800	Active TSS	Brain Hippocampus Middle	brain
22	chr19:38720000-38721000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:38720000-38724600	Weak transcription	Fetal Heart	heart
24	chr19:38720200-38720800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr19:38720200-38720800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr19:38720200-38720800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr19:38720400-38720800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:38720600-38720800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr19:38720600-38720800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:38720600-38720800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:38720600-38720800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr19:38720600-38720800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:38720600-38720800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:38720600-38720800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr19:38720600-38720800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr19:38720600-38720800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:38720600-38720800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:38720600-38720800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr19:38720600-38720800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr19:38720600-38720800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr19:38720600-38720800	Flanking Bivalent TSS/Enh	A549	lung
42	chr19:38720600-38720800	Flanking Active TSS	NHDF-Ad	bronchial
43	chr19:38720600-38721000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:38720600-38721000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr19:38720600-38721000	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr19:38720600-38740400	Weak transcription	Right Atrium	heart

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