Variant report

Variant	rs7259701
Chromosome Location	chr19:56115993-56115994
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	MAX	chr19:56115872-56117235	K562	blood:	n/a	chr19:56116532-56116542 chr19:56116876-56116886 chr19:56116995-56117005
2	IRF1	chr19:56115939-56117029	K562	blood:	n/a	chr19:56116533-56116547 chr19:56116689-56116703 chr19:56116513-56116527 chr19:56115982-56115996
3	SP1	chr19:56115773-56118030	A549	lung:	n/a	chr19:56116015-56116025 chr19:56116530-56116544 chr19:56117056-56117070 chr19:56115982-56115994 chr19:56117707-56117714 chr19:56116691-56116700 chr19:56116998-56117007 chr19:56116533-56116545 chr19:56116515-56116524 chr19:56116997-56117009 chr19:56116015-56116025 chr19:56116690-56116700 chr19:56115982-56115994 chr19:56116689-56116701 chr19:56116691-56116700 chr19:56116515-56116524 chr19:56116513-56116525 chr19:56116690-56116699 chr19:56116514-56116524 chr19:56116670-56116680 chr19:56116535-56116544 chr19:56116533-56116545 chr19:56116686-56116700 chr19:56116670-56116680 chr19:56116534-56116544 chr19:56116997-56117009 chr19:56116690-56116700 chr19:56116689-56116701 chr19:56116535-56116544 chr19:56115984-56115993 chr19:56116514-56116524 chr19:56116514-56116523 chr19:56116991-56117000 chr19:56116994-56117008 chr19:56116513-56116525 chr19:56116534-56116544 chr19:56117444-56117453 chr19:56115979-56115993 chr19:56116510-56116524 chr19:56116534-56116543
4	EP300	chr19:56115944-56116843	A549	lung:	n/a	chr19:56116145-56116154
5	CTCF	chr19:56115980-56116130	HCPEpiC	choroid plexus:	n/a	n/a
6	CBX3	chr19:56115795-56116301	K562	blood:	n/a	n/a
7	REST	chr19:56115860-56116841	A549	lung:	n/a	chr19:56116573-56116586 chr19:56116100-56116108
8	NRF1	chr19:56115804-56117411	SK-N-SH	brain:	n/a	chr19:56116858-56116872 chr19:56116788-56116799 chr19:56116788-56116799 chr19:56116690-56116699 chr19:56116861-56116870 chr19:56116861-56116872 chr19:56116788-56116802 chr19:56116534-56116543 chr19:56116948-56116955
9	SP1	chr19:56115878-56117128	A549	lung:	n/a	chr19:56116015-56116025 chr19:56116530-56116544 chr19:56117056-56117070 chr19:56115982-56115994 chr19:56116691-56116700 chr19:56116998-56117007 chr19:56116533-56116545 chr19:56116515-56116524 chr19:56116997-56117009 chr19:56116015-56116025 chr19:56116690-56116700 chr19:56115982-56115994 chr19:56116689-56116701 chr19:56116691-56116700 chr19:56116515-56116524 chr19:56116513-56116525 chr19:56116690-56116699 chr19:56116514-56116524 chr19:56116670-56116680 chr19:56116535-56116544 chr19:56116533-56116545 chr19:56116686-56116700 chr19:56116670-56116680 chr19:56116534-56116544 chr19:56116997-56117009 chr19:56116690-56116700 chr19:56116689-56116701 chr19:56116535-56116544 chr19:56115984-56115993 chr19:56116514-56116524 chr19:56116514-56116523 chr19:56116991-56117000 chr19:56116994-56117008 chr19:56116513-56116525 chr19:56116534-56116544 chr19:56115979-56115993 chr19:56116510-56116524 chr19:56116534-56116543
10	POLR2A	chr19:56115967-56117792	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr19:56115980-56116130	AG09319	gingival:	n/a	n/a
12	MAX	chr19:56115857-56118135	A549	lung:	n/a	chr19:56116532-56116542 chr19:56116876-56116886 chr19:56116995-56117005
13	MAZ	chr19:56115892-56118114	K562	blood:	n/a	chr19:56116532-56116542 chr19:56116876-56116886 chr19:56116995-56117005
14	POLR2A	chr19:56115859-56118733	MCF10A-Er-Src	breast:	n/a	n/a
15	ETS1	chr19:56115923-56117142	A549	lung:	n/a	chr19:56117011-56117024 chr19:56116688-56116699 chr19:56117012-56117021 chr19:56117012-56117021 chr19:56117010-56117021 chr19:56116945-56116954 chr19:56116734-56116743 chr19:56117012-56117021 chr19:56117012-56117021 chr19:56117009-56117025 chr19:56116039-56116050 chr19:56117012-56117021 chr19:56117012-56117021 chr19:56116532-56116543 chr19:56117012-56117021 chr19:56117010-56117020
16	GABPA	chr19:56115948-56117988	A549	lung:	n/a	chr19:56116858-56116872 chr19:56116788-56116799 chr19:56116690-56116699 chr19:56116861-56116870 chr19:56116861-56116872 chr19:56116788-56116802 chr19:56116534-56116543 chr19:56116948-56116955
17	POLR2A	chr19:56115877-56117080	HCT-116	colon:	n/a	n/a
18	YY1	chr19:56115943-56116226	HCT-116	colon:	n/a	chr19:56116038-56116052
19	PBX3	chr19:56115937-56117349	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr19:56115980-56117993	GM18505	blood:	n/a	n/a
21	POLR2A	chr19:56115798-56117257	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr19:56115953-56116503	K562	blood:	n/a	n/a
23	POLR2A	chr19:56115902-56117498	HL-60	blood:	n/a	n/a
24	POLR2A	chr19:56115858-56117932	HUVEC	blood vessel:	n/a	n/a
25	RFX5	chr19:56115868-56118564	IMR90	lung:	n/a	n/a
26	YY1	chr19:56115946-56116369	H1-hESC	embryonic stem cell:	n/a	chr19:56116038-56116052
27	CTCF	chr19:56115960-56116110	AG04449	skin:	n/a	n/a
28	POLR2A	chr19:56115967-56118680	MCF10A-Er-Src	breast:	n/a	n/a
29	TBP	chr19:56115955-56116973	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr19:56115811-56117998	H1-neurons	neurons:	n/a	chr19:56116573-56116586 chr19:56117647-56117661 chr19:56117208-56117218 chr19:56116100-56116108 chr19:56117590-56117603
31	POLR2A	chr19:56115869-56118088	HCT-116	colon:	n/a	n/a
32	POLR2A	chr19:56115830-56117188	H1-hESC	embryonic stem cell:	n/a	n/a
33	ELF1	chr19:56115990-56116330	A549	lung:	n/a	chr19:56116039-56116051
34	SP1	chr19:56115940-56116881	H1-hESC	embryonic stem cell:	n/a	chr19:56116015-56116025 chr19:56116530-56116544 chr19:56115982-56115994 chr19:56116691-56116700 chr19:56116533-56116545 chr19:56116515-56116524 chr19:56116015-56116025 chr19:56116690-56116700 chr19:56115982-56115994 chr19:56116689-56116701 chr19:56116691-56116700 chr19:56116515-56116524 chr19:56116513-56116525 chr19:56116690-56116699 chr19:56116514-56116524 chr19:56116670-56116680 chr19:56116535-56116544 chr19:56116533-56116545 chr19:56116686-56116700 chr19:56116670-56116680 chr19:56116534-56116544 chr19:56116690-56116700 chr19:56116689-56116701 chr19:56116535-56116544 chr19:56115984-56115993 chr19:56116514-56116524 chr19:56116514-56116523 chr19:56116513-56116525 chr19:56116534-56116544 chr19:56115979-56115993 chr19:56116510-56116524 chr19:56116534-56116543
35	TBL1XR1	chr19:56115982-56116877	K562	blood:	n/a	n/a
36	POLR2A	chr19:56115878-56118235	GM12891	blood:	n/a	n/a
37	POLR2A	chr19:56115934-56118065	HepG2	liver:	n/a	n/a
38	POLR2A	chr19:56115843-56117498	HUVEC	blood vessel:	n/a	n/a
39	SETDB1	chr19:56115640-56116152	U2OS	brain:	n/a	n/a
40	POLR2A	chr19:56115960-56117987	GM12892	blood:	n/a	n/a
41	MAX	chr19:56115904-56117140	ECC-1	luminal epithelium:	n/a	chr19:56116532-56116542 chr19:56116876-56116886 chr19:56116995-56117005
42	CTCF	chr19:56115960-56116110	AG09309	skin:	n/a	n/a
43	CTCF	chr19:56115980-56116130	AG10803	skin:	n/a	n/a
44	GABPA	chr19:56115966-56117299	SK-N-SH	brain:	n/a	chr19:56116858-56116872 chr19:56116788-56116799 chr19:56116690-56116699 chr19:56116861-56116870 chr19:56116861-56116872 chr19:56116788-56116802 chr19:56116534-56116543 chr19:56116948-56116955
45	SIN3AK20	chr19:56115979-56117197	MCF-7	breast:	n/a	n/a
46	HDAC2	chr19:56115922-56116150	K562	blood:	n/a	n/a
47	POLR2A	chr19:56115875-56117140	HL-60	blood:	n/a	n/a
48	CTCF	chr19:56115980-56116130	HA-sp	spinal cord:	n/a	n/a
49	ELF1	chr19:56115974-56117169	K562	blood:	n/a	chr19:56116039-56116051 chr19:56116946-56116955
50	PML	chr19:56115958-56118093	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56115235..56119649-chr19:56131831..56136050,11	K562	blood:
2	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
3	chr19:56115993..56118637-chr19:56165089..56166891,2	K562	blood:
4	chr19:56115086..56118069-chr19:56150430..56156112,7	MCF-7	breast:
5	chr19:56089635..56093860-chr19:56114549..56117863,7	MCF-7	breast:
6	chr19:55987823..55989523-chr19:56114913..56117449,2	MCF-7	breast:
7	chr19:56090169..56092929-chr19:56114581..56116716,3	K562	blood:
8	chr19:56114376..56117189-chr19:56151962..56154337,3	K562	blood:
9	chr19:55894932..55897598-chr19:56114798..56116891,2	MCF-7	breast:

Variant related genes	Relation type
FIZ1	TF binding region
ZNF865	TF binding region
ENSG00000179922	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000218891	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000063245	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10417785	1.00[MEX][hapmap]
rs612211	1.00[MEX][hapmap]
rs7249947	0.81[AFR][1000 genomes]
rs73934393	1.00[AMR][1000 genomes]
rs73934395	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56111600-56116000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:56112200-56116000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:56112400-56116000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:56112400-56116000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:56112400-56116400	Weak transcription	Aorta	Aorta
6	chr19:56112600-56116000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:56112600-56116000	Weak transcription	Fetal Lung	lung
8	chr19:56112600-56116000	Weak transcription	HSMMtube	muscle
9	chr19:56112800-56116000	Weak transcription	Brain Angular Gyrus	brain
10	chr19:56112800-56116000	Weak transcription	Brain Anterior Caudate	brain
11	chr19:56112800-56116000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:56112800-56116000	Weak transcription	Fetal Kidney	kidney
13	chr19:56112800-56116000	Weak transcription	Left Ventricle	heart
14	chr19:56112800-56116000	Weak transcription	Psoas Muscle	Psoas
15	chr19:56112800-56116000	Weak transcription	Right Atrium	heart
16	chr19:56112800-56116000	Weak transcription	NH-A	brain
17	chr19:56113000-56116000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:56113000-56116000	Weak transcription	Primary T cells from cord blood	blood
19	chr19:56113000-56116000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:56113000-56116000	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:56113000-56116000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr19:56113000-56116000	Weak transcription	Brain Substantia Nigra	brain
23	chr19:56113000-56116000	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:56113000-56116000	Weak transcription	Fetal Heart	heart
25	chr19:56113000-56116000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:56113000-56116000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr19:56113000-56116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:56113000-56116000	Weak transcription	NHDF-Ad	bronchial
29	chr19:56113000-56116200	Weak transcription	Small Intestine	intestine
30	chr19:56113200-56116000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:56113200-56116000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr19:56113200-56116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:56113400-56116000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:56113400-56116000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:56113400-56116000	Weak transcription	NHEK	skin
36	chr19:56113600-56116000	Weak transcription	HMEC	breast
37	chr19:56114000-56116000	Enhancers	Stomach Mucosa	stomach
38	chr19:56114400-56116000	Enhancers	Placenta	Placenta
39	chr19:56114600-56116000	Weak transcription	Esophagus	oesophagus
40	chr19:56114600-56116000	Weak transcription	Right Ventricle	heart
41	chr19:56114600-56116000	Weak transcription	NHLF	lung
42	chr19:56114600-56116600	Weak transcription	Gastric	stomach
43	chr19:56114800-56116000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:56114800-56116000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:56114800-56116000	Enhancers	Pancreas	Pancrea
46	chr19:56115000-56116000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:56115000-56116000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:56115000-56116000	Weak transcription	Colonic Mucosa	Colon
49	chr19:56115000-56116000	Enhancers	Lung	lung
50	chr19:56115000-56117800	Active TSS	HUES6 Cell Line	embryonic stem cell

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