Variant report

Variant	rs374447130
Chromosome Location	chr19:39832143-39832144
allele	-/AG
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	SIX5	chr19:39831927-39832954	A549	lung:	n/a	n/a
2	CHD2	chr19:39832074-39833153	Hela-S3	cervix:	n/a	chr19:39832940-39832950 chr19:39832779-39832789
3	HEY1	chr19:39832040-39832736	K562	blood:	n/a	n/a
4	CTCF	chr19:39832138-39832300	GM19239	blood:	n/a	n/a
5	MXI1	chr19:39832126-39832914	K562	blood:	n/a	n/a
6	CTCF	chr19:39832096-39832316	HepG2	liver:	n/a	n/a
7	CTCF	chr19:39832060-39832210	HMEC	breast:	n/a	n/a
8	RCOR1	chr19:39832109-39833084	Hela-S3	cervix:	n/a	n/a
9	SP1	chr19:39831978-39833166	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
10	CTCF	chr19:39832100-39832250	RPTEC	kidney:	n/a	n/a
11	CTCF	chr19:39832100-39832250	GM12864	blood:	n/a	n/a
12	CTCF	chr19:39832060-39832210	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:39832120-39832347	GM12892	blood:	n/a	n/a
14	ZNF143	chr19:39832081-39833100	GM12878	blood:	n/a	chr19:39832788-39832806
15	CREB1	chr19:39832084-39833374	HepG2	liver:	n/a	n/a
16	ZBTB7A	chr19:39832001-39833118	K562	blood:	n/a	chr19:39832625-39832632 chr19:39832784-39832791
17	CTCF	chr19:39832120-39832270	HEK293	kidney:	n/a	n/a
18	CTCF	chr19:39832120-39832270	HFF	foreskin:	n/a	n/a
19	MYC	chr19:39832109-39833085	K562	blood:	n/a	chr19:39832865-39832875 chr19:39832862-39832872 chr19:39832756-39832765 chr19:39832838-39832847
20	CTCF	chr19:39832140-39832290	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr19:39832120-39832270	NHEK	skin:	n/a	n/a
22	POLR2A	chr19:39832126-39832786	Raji	blood:	n/a	n/a
23	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
24	CTCF	chr19:39832100-39832250	SAEC	small airway:	n/a	n/a
25	STAT5A	chr19:39832045-39832776	GM12878	blood:	n/a	chr19:39832628-39832640
26	UBTF	chr19:39832076-39832721	K562	blood:	n/a	n/a
27	ETS1	chr19:39832021-39832932	K562	blood:	n/a	chr19:39832633-39832646 chr19:39832421-39832428
28	TCF12	chr19:39831813-39833183	A549	lung:	n/a	chr19:39832681-39832691
29	CTCF	chr19:39832100-39832250	GM12875	blood:	n/a	n/a
30	HCFC1	chr19:39832043-39833341	Hela-S3	cervix:	n/a	n/a
31	SIN3AK20	chr19:39831964-39832854	A549	lung:	n/a	n/a
32	GABPA	chr19:39832054-39832909	A549	lung:	n/a	chr19:39832792-39832801 chr19:39832772-39832781
33	REST	chr19:39832009-39832794	A549	lung:	n/a	n/a
34	POLR2A	chr19:39832137-39832777	GM12878	blood:	n/a	n/a
35	TAF1	chr19:39832138-39832767	Hela-S3	cervix:	n/a	n/a
36	EP300	chr19:39832048-39832948	A549	lung:	n/a	n/a
37	POLR2A	chr19:39831525-39832937	K562	blood:	n/a	n/a
38	RCOR1	chr19:39832080-39832729	K562	blood:	n/a	n/a
39	EP300	chr19:39832042-39832954	A549	lung:	n/a	chr19:39832933-39832949
40	POLR2A	chr19:39832107-39832791	GM12878	blood:	n/a	n/a
41	CTCF	chr19:39832105-39832903	K562	blood:	n/a	chr19:39832861-39832874 chr19:39832707-39832725 chr19:39832709-39832722
42	CTCF	chr19:39832140-39832290	HBMEC	blood vessel:	n/a	n/a
43	SIN3AK20	chr19:39832052-39832761	A549	lung:	n/a	n/a
44	CTCF	chr19:39832026-39832413	K562	blood:	n/a	n/a
45	CTCF	chr19:39832140-39832290	AG10803	skin:	n/a	n/a
46	POLR2A	chr19:39832042-39832198	HepG2	liver:	n/a	n/a
47	MTA3	chr19:39832049-39832676	GM12878	blood:	n/a	n/a
48	CTCF	chr19:39832100-39832250	HPAF	blood vessel:	n/a	n/a
49	BCLAF1	chr19:39832079-39832910	GM12878	blood:	n/a	chr19:39832792-39832805
50	TAF1	chr19:39832115-39832828	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39831356..39834540-chr19:39880141..39881911,4	MCF-7	breast:
2	chr19:39831059..39833135-chr19:39987962..39989581,2	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	chr19:39832142..39833135-chr2:131850385..131851088,2	HCT-116	colon:
7	chr19:39753838..39756399-chr19:39831359..39832891,2	K562	blood:
8	chr19:39831269..39834563-chr19:39900586..39904953,4	MCF-7	breast:
9	chr19:39829936..39834375-chr19:39901478..39904741,5	MCF-7	breast:
10	chr19:39830889..39835466-chr19:39836647..39841099,6	MCF-7	breast:
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	chr19:39832081..39833059-chr19:39903132..39904192,3	K562	blood:
15	chr19:39826340..39829691-chr19:39831267..39834495,5	K562	blood:
16	chr19:39809900..39813494-chr19:39831059..39834441,3	MCF-7	breast:
17	chr19:39419877..39422700-chr19:39830755..39832445,2	MCF-7	breast:

Variant related genes	Relation type
SAMD4B	TF binding region
ENSG00000130755	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000268262	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000152102	Chromatin interaction
ENSG00000272311	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000090932	Chromatin interaction
ENSG00000130669	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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39831200-39832400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:39831400-39832200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr19:39831400-39832200	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr19:39831400-39832200	Flanking Active TSS	Fetal Brain Male	brain
5	chr19:39831400-39832400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr19:39831400-39832400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr19:39831400-39832400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr19:39831400-39832400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr19:39831400-39832400	Flanking Active TSS	Placenta	Placenta
10	chr19:39831400-39832600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:39831400-39832600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr19:39831400-39832600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:39831400-39832600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr19:39831400-39832600	Flanking Active TSS	Liver	Liver
15	chr19:39831400-39832600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr19:39831400-39832600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr19:39831400-39832600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr19:39831400-39834200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:39831400-39834400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:39831600-39832400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:39831600-39832400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr19:39831600-39832400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr19:39831600-39832600	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr19:39831600-39832600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:39831600-39832600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:39831600-39832600	Bivalent/Poised TSS	HepG2	liver
27	chr19:39831600-39833600	Active TSS	Thymus	Thymus
28	chr19:39831600-39834000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:39831600-39834000	Active TSS	NHLF	lung
30	chr19:39831600-39834400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr19:39831800-39832200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:39831800-39832600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr19:39831800-39832600	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr19:39831800-39832600	Active TSS	Fetal Kidney	kidney
35	chr19:39831800-39832600	Active TSS	Fetal Lung	lung
36	chr19:39831800-39832600	Active TSS	Placenta Amnion	Placenta Amnion
37	chr19:39831800-39832600	Active TSS	NHDF-Ad	bronchial
38	chr19:39831800-39833600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:39831800-39833600	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr19:39831800-39833600	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr19:39831800-39833600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:39831800-39833600	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr19:39831800-39833800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:39831800-39833800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr19:39831800-39833800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:39831800-39833800	Active TSS	Aorta	Aorta
47	chr19:39831800-39833800	Active TSS	Fetal Intestine Large	intestine
48	chr19:39831800-39833800	Active TSS	Small Intestine	intestine
49	chr19:39831800-39833800	Active TSS	Dnd41	blood
50	chr19:39831800-39833800	Active TSS	GM12878-XiMat	blood

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