Variant report

Variant	rs190724403
Chromosome Location	chr17:63096613-63096614
allele	A/C
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	MYC	chr17:63096085-63096995	MCF10A-Er-Src	breast:	n/a	chr17:63096967-63096977
2	CTCF	chr17:63096520-63096670	HPAF	blood vessel:	n/a	n/a
3	TCF12	chr17:63095986-63097512	A549	lung:	n/a	n/a
4	MAX	chr17:63096171-63096872	ECC-1	luminal epithelium:	n/a	n/a
5	MYBL2	chr17:63096236-63096927	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:63096595-63097252	MCF-7	breast:	n/a	n/a
7	POLR2A	chr17:63096551-63096645	ProgFib	skin:	n/a	n/a
8	EBF1	chr17:63095977-63097000	GM12878	blood:	n/a	chr17:63096189-63096200
9	RCOR1	chr17:63095655-63096980	K562	blood:	n/a	n/a
10	RAD21	chr17:63096158-63097120	ECC-1	luminal epithelium:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
11	ATF2	chr17:63095924-63096675	GM12878	blood:	n/a	n/a
12	NFIC	chr17:63095997-63096917	GM12878	blood:	n/a	n/a
13	MAX	chr17:63096054-63097448	MCF-7	breast:	n/a	chr17:63097222-63097232 chr17:63097225-63097234 chr17:63096967-63096977
14	POLR2A	chr17:63095989-63096845	GM12878	blood:	n/a	n/a
15	FOXM1	chr17:63095952-63097046	GM12878	blood:	n/a	n/a
16	YY1	chr17:63096467-63096973	A549	lung:	n/a	chr17:63096761-63096770
17	YY1	chr17:63096498-63097166	HepG2	liver:	n/a	chr17:63096761-63096770 chr17:63096966-63096980 chr17:63096979-63096990
18	POLR2A	chr17:63096002-63096915	GM12892	blood:	n/a	n/a
19	RAD21	chr17:63096361-63097061	SK-N-SH_RA	brain:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
20	POLR2A	chr17:63096516-63096902	A549	lung:	n/a	n/a
21	MXI1	chr17:63096256-63097141	HepG2	liver:	n/a	n/a
22	ELF1	chr17:63096509-63097407	GM12878	blood:	n/a	chr17:63096820-63096832
23	GATA2	chr17:63096195-63097623	SH-SY5Y	brain:	n/a	n/a
24	CTCF	chr17:63096592-63096996	GM12891	blood:	n/a	chr17:63096833-63096849 chr17:63096832-63096850 chr17:63096837-63096850 chr17:63096766-63096779 chr17:63096834-63096847 chr17:63096817-63096830 chr17:63096827-63096848 chr17:63096834-63096847
25	CTCF	chr17:63096611-63097002	GM12892	blood:	n/a	chr17:63096833-63096849 chr17:63096832-63096850 chr17:63096837-63096850 chr17:63096766-63096779 chr17:63096834-63096847 chr17:63096817-63096830 chr17:63096827-63096848 chr17:63096834-63096847
26	POLR2A	chr17:63096518-63097110	A549	lung:	n/a	n/a
27	MYC	chr17:63096420-63097005	NB4	blood:	n/a	chr17:63096967-63096977
28	CTCF	chr17:63096602-63097000	GM19238	blood:	n/a	chr17:63096833-63096849 chr17:63096832-63096850 chr17:63096837-63096850 chr17:63096766-63096779 chr17:63096834-63096847 chr17:63096817-63096830 chr17:63096827-63096848 chr17:63096834-63096847
29	NANOG	chr17:63096594-63096959	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFIC	chr17:63096033-63096659	ECC-1	luminal epithelium:	n/a	n/a
31	BCL3	chr17:63096007-63096919	A549	lung:	n/a	chr17:63096771-63096784 chr17:63096763-63096772 chr17:63096597-63096606 chr17:63096816-63096829
32	EGR1	chr17:63096548-63096922	GM12878	blood:	n/a	chr17:63096855-63096865 chr17:63096706-63096720 chr17:63096736-63096750 chr17:63096721-63096735
33	SPI1	chr17:63096498-63096708	GM12878	blood:	n/a	chr17:63096597-63096606
34	ZNF263	chr17:63096195-63096937	K562	blood:	n/a	chr17:63096647-63096668
35	MAX	chr17:63096374-63097232	K562	blood:	n/a	chr17:63097222-63097232 chr17:63096967-63096977
36	RAD21	chr17:63096546-63097181	HepG2	liver:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
37	POLR2A	chr17:63096542-63097121	HCT-116	colon:	n/a	n/a
38	MAZ	chr17:63096142-63097126	K562	blood:	n/a	chr17:63096967-63096977
39	CTCF	chr17:63096126-63097128	MCF-7	breast:	n/a	chr17:63096833-63096849 chr17:63096832-63096850 chr17:63096837-63096850 chr17:63096766-63096779 chr17:63096834-63096847 chr17:63096817-63096830 chr17:63096827-63096848 chr17:63096834-63096847
40	POLR2A	chr17:63096065-63096733	Hela-S3	cervix:	n/a	n/a
41	TEAD4	chr17:63096609-63097053	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr17:63096520-63096670	NHEK	skin:	n/a	n/a
43	MAZ	chr17:63096471-63097919	IMR90	lung:	n/a	chr17:63097652-63097661 chr17:63097222-63097232 chr17:63097652-63097661 chr17:63097225-63097234 chr17:63096967-63096977 chr17:63097652-63097662 chr17:63097653-63097660 chr17:63097648-63097663
44	TCF7L2	chr17:63096082-63096952	HCT-116	colon:	n/a	n/a
45	ELK1	chr17:63096248-63096947	GM12878	blood:	n/a	n/a
46	NFATC1	chr17:63096006-63096644	GM12878	blood:	n/a	n/a
47	RAD21	chr17:63096160-63097050	A549	lung:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
48	POLR2A	chr17:63096066-63097175	GM12892	blood:	n/a	n/a
49	POLR2A	chr17:63096118-63096738	GM12891	blood:	n/a	n/a
50	IRF4	chr17:63095984-63096821	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:63051381..63054935-chr17:63092846..63100708,11	MCF-7	breast:
2	chr17:63094402..63096834-chr17:63124738..63127386,3	MCF-7	breast:
3	chr17:62971246..62972147-chr17:63096451..63097018,2	MCF-7	breast:
4	chr17:62969521..62973434-chr17:63095329..63098484,3	MCF-7	breast:
5	chr17:63051785..63054961-chr17:63094963..63102322,8	MCF-7	breast:
6	chr17:63096447..63097264-chr17:63133141..63133975,2	K562	blood:
7	chr17:63090606..63093224-chr17:63094471..63096809,2	K562	blood:
8	chr17:62773091..62773822-chr17:63096388..63096888,2	K562	blood:
9	chr17:63056815..63059165-chr17:63094050..63096835,2	MCF-7	breast:
10	chr17:63050336..63051938-chr17:63095270..63097179,2	K562	blood:
11	chr17:63096537..63097262-chr17:63133022..63134065,3	MCF-7	breast:
12	chr17:63094877..63096816-chr17:63119599..63121828,2	K562	blood:

Variant related genes	Relation type
ENSG00000263470	TF binding region
ENSG00000120063	Chromatin interaction
ENSG00000108370	Chromatin interaction
ENSG00000214174	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	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv112229	chr17:63095123-63104894	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63095400-63097200	Enhancers	Small Intestine	intestine
2	chr17:63095800-63097200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:63096200-63096800	Enhancers	Spleen	Spleen
4	chr17:63096200-63096800	Flanking Active TSS	NH-A	brain
5	chr17:63096200-63097000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:63096200-63097000	Active TSS	Liver	Liver
7	chr17:63096200-63097000	Active TSS	Colonic Mucosa	Colon
8	chr17:63096200-63097000	Enhancers	Fetal Heart	heart
9	chr17:63096200-63097000	Active TSS	Lung	lung
10	chr17:63096200-63097200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:63096200-63097200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:63096200-63097400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:63096200-63097400	Enhancers	Primary hematopoietic stem cells	blood
14	chr17:63096200-63097400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:63096200-63097400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:63096200-63097400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:63096200-63097400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr17:63096200-63097400	Flanking Active TSS	HMEC	breast
19	chr17:63096400-63096800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:63096400-63096800	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr17:63096400-63097000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr17:63096400-63097000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr17:63096400-63097000	Active TSS	Esophagus	oesophagus
24	chr17:63096400-63097000	Active TSS	Pancreas	Pancrea
25	chr17:63096400-63097200	Active TSS	Fetal Stomach	stomach
26	chr17:63096400-63097200	Active TSS	Left Ventricle	heart
27	chr17:63096400-63097200	Active TSS	Right Ventricle	heart
28	chr17:63096400-63097200	Active TSS	Stomach Mucosa	stomach
29	chr17:63096400-63097200	Flanking Active TSS	Thymus	Thymus
30	chr17:63096400-63097200	Flanking Active TSS	Dnd41	blood
31	chr17:63096400-63097200	Active TSS	HSMMtube	muscle
32	chr17:63096400-63097400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr17:63096400-63097400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:63096400-63097400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:63096400-63097400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:63096400-63097400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr17:63096400-63097400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr17:63096400-63097400	Active TSS	Aorta	Aorta
39	chr17:63096400-63097400	Active TSS	Fetal Kidney	kidney
40	chr17:63096400-63097400	Active TSS	Psoas Muscle	Psoas
41	chr17:63096400-63097600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr17:63096400-63097600	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr17:63096400-63097600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr17:63096400-63097600	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr17:63096400-63097600	Active TSS	Right Atrium	heart
46	chr17:63096400-63097800	Active TSS	Brain Cingulate Gyrus	brain
47	chr17:63096600-63097000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:63096600-63097000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr17:63096600-63097000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:63096600-63097000	Active TSS	Primary monocytes fromperipheralblood	blood

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