Variant report

Variant	rs145538566
Chromosome Location	chr19:39832473-39832474
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	POU2F2	chr19:39832324-39832789	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:39832184-39832755	Hela-S3	cervix:	n/a	n/a
3	SIX5	chr19:39831927-39832954	A549	lung:	n/a	n/a
4	RUNX3	chr19:39832304-39833147	GM12878	blood:	n/a	n/a
5	GABPA	chr19:39832345-39832990	MCF-7	breast:	n/a	chr19:39832792-39832801 chr19:39832772-39832781
6	CUX1	chr19:39832285-39832746	K562	blood:	n/a	n/a
7	TCF3	chr19:39832453-39832797	GM12878	blood:	n/a	n/a
8	USF2	chr19:39832337-39832774	H1-hESC	embryonic stem cell:	n/a	n/a
9	RFX5	chr19:39832188-39833111	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr19:39832262-39833319	K562	blood:	n/a	n/a
11	CHD2	chr19:39832074-39833153	Hela-S3	cervix:	n/a	chr19:39832940-39832950 chr19:39832779-39832789
12	ELK1	chr19:39832471-39832717	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:39832182-39832907	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:39832401-39833225	HepG2	liver:	n/a	n/a
15	HEY1	chr19:39832040-39832736	K562	blood:	n/a	n/a
16	MAX	chr19:39832372-39832913	SK-N-SH	brain:	n/a	chr19:39832865-39832875 chr19:39832862-39832872 chr19:39832756-39832765 chr19:39832838-39832847
17	MXI1	chr19:39832126-39832914	K562	blood:	n/a	n/a
18	ZNF143	chr19:39832159-39832885	H1-hESC	embryonic stem cell:	n/a	chr19:39832788-39832806
19	RCOR1	chr19:39832109-39833084	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr19:39832232-39833014	MCF-7	breast:	n/a	chr19:39832792-39832801 chr19:39832772-39832781
21	EP300	chr19:39832327-39832764	GM12878	blood:	n/a	n/a
22	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
23	GABPA	chr19:39832375-39832893	K562	blood:	n/a	chr19:39832792-39832801 chr19:39832772-39832781
24	POLR2A	chr19:39832334-39832767	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr19:39832446-39832871	H1-hESC	embryonic stem cell:	n/a	chr19:39832707-39832725 chr19:39832709-39832722
26	TBP	chr19:39832367-39832778	HepG2	liver:	n/a	n/a
27	ZNF143	chr19:39832081-39833100	GM12878	blood:	n/a	chr19:39832788-39832806
28	BACH1	chr19:39832369-39832765	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr19:39832084-39833374	HepG2	liver:	n/a	n/a
30	ZBTB7A	chr19:39832001-39833118	K562	blood:	n/a	chr19:39832625-39832632 chr19:39832784-39832791
31	TBP	chr19:39832262-39832768	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr19:39832442-39832703	Hela-S3	cervix:	n/a	n/a
33	MYC	chr19:39832109-39833085	K562	blood:	n/a	chr19:39832865-39832875 chr19:39832862-39832872 chr19:39832756-39832765 chr19:39832838-39832847
34	POLR2A	chr19:39832265-39832777	SK-N-SH	brain:	n/a	n/a
35	YY1	chr19:39832397-39833238	GM12891	blood:	n/a	chr19:39832956-39832970 chr19:39832792-39832801 chr19:39832797-39832808
36	MAFK	chr19:39832265-39832758	K562	blood:	n/a	n/a
37	TEAD4	chr19:39832411-39832835	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:39832126-39832786	Raji	blood:	n/a	n/a
39	SMC3	chr19:39832144-39832943	Hela-S3	cervix:	n/a	chr19:39832709-39832719 chr19:39832709-39832723
40	USF1	chr19:39832369-39832820	SK-N-SH	brain:	n/a	n/a
41	ZC3H11A	chr19:39832313-39832803	K562	blood:	n/a	n/a
42	SP2	chr19:39832375-39833176	K562	blood:	n/a	chr19:39832782-39832791 chr19:39832779-39832794 chr19:39832625-39832634
43	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
44	YY1	chr19:39832402-39833194	K562	blood:	n/a	chr19:39832956-39832970 chr19:39832792-39832801 chr19:39832797-39832808
45	EGR1	chr19:39832320-39833235	K562	blood:	n/a	chr19:39832862-39832875 chr19:39832834-39832844 chr19:39832861-39832876 chr19:39832792-39832802 chr19:39832734-39832758 chr19:39832793-39832806 chr19:39832862-39832875 chr19:39832864-39832874
46	POU2F2	chr19:39832184-39832739	GM12878	blood:	n/a	n/a
47	STAT5A	chr19:39832045-39832776	GM12878	blood:	n/a	chr19:39832628-39832640
48	UBTF	chr19:39832076-39832721	K562	blood:	n/a	n/a
49	ETS1	chr19:39832021-39832932	K562	blood:	n/a	chr19:39832633-39832646 chr19:39832421-39832428
50	ZBTB33	chr19:39832166-39832876	A549	lung:	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	chr19:39832237..39832969-chr19:40023143..40024117,2	K562	blood:
17	chr19:39809900..39813494-chr19:39831059..39834441,3	MCF-7	breast:
18	chr19:39832183..39834517-chr19:39925160..39926923,2	MCF-7	breast:

Variant related genes	Relation type
SAMD4B	TF binding region
ENSG00000196235	Chromatin interaction
ENSG00000272311	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000130669	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000268262	Chromatin interaction
ENSG00000152102	Chromatin interaction
ENSG00000090932	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000090924	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	chr19:39831400-39832600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:39831400-39832600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr19:39831400-39832600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:39831400-39832600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr19:39831400-39832600	Flanking Active TSS	Liver	Liver
6	chr19:39831400-39832600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:39831400-39832600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr19:39831400-39832600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr19:39831400-39834200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:39831400-39834400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr19:39831600-39832600	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr19:39831600-39832600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:39831600-39832600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:39831600-39832600	Bivalent/Poised TSS	HepG2	liver
15	chr19:39831600-39833600	Active TSS	Thymus	Thymus
16	chr19:39831600-39834000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:39831600-39834000	Active TSS	NHLF	lung
18	chr19:39831600-39834400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:39831800-39832600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr19:39831800-39832600	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr19:39831800-39832600	Active TSS	Fetal Kidney	kidney
22	chr19:39831800-39832600	Active TSS	Fetal Lung	lung
23	chr19:39831800-39832600	Active TSS	Placenta Amnion	Placenta Amnion
24	chr19:39831800-39832600	Active TSS	NHDF-Ad	bronchial
25	chr19:39831800-39833600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:39831800-39833600	Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr19:39831800-39833600	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr19:39831800-39833600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:39831800-39833600	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr19:39831800-39833800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:39831800-39833800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr19:39831800-39833800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:39831800-39833800	Active TSS	Aorta	Aorta
34	chr19:39831800-39833800	Active TSS	Fetal Intestine Large	intestine
35	chr19:39831800-39833800	Active TSS	Small Intestine	intestine
36	chr19:39831800-39833800	Active TSS	Dnd41	blood
37	chr19:39831800-39833800	Active TSS	GM12878-XiMat	blood
38	chr19:39831800-39833800	Active TSS	HSMMtube	muscle
39	chr19:39831800-39833800	Active TSS	K562	blood
40	chr19:39831800-39833800	Active TSS	NH-A	brain
41	chr19:39831800-39833800	Active TSS	NHEK	skin
42	chr19:39831800-39834000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:39831800-39834000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:39831800-39834000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr19:39831800-39834000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:39831800-39834000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:39831800-39834000	Active TSS	Fetal Stomach	stomach
48	chr19:39831800-39834000	Active TSS	Ovary	ovary
49	chr19:39831800-39834000	Active TSS	Osteobl	bone
50	chr19:39831800-39834200	Active TSS	HUES64 Cell Line	embryonic stem cell

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