Variant report

Variant	rs9910300
Chromosome Location	chr17:19562837-19562838
allele	A/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	FOXA2	chr17:19562512-19562893	HepG2	liver:	n/a	n/a
2	MYBL2	chr17:19562383-19563108	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:19562618-19562902	HepG2	liver:	n/a	n/a
4	EP300	chr17:19562557-19562910	HepG2	liver:	n/a	n/a
5	NFIC	chr17:19562670-19563434	ECC-1	luminal epithelium:	n/a	n/a
6	JUND	chr17:19562608-19562910	HepG2	liver:	n/a	n/a
7	MYBL2	chr17:19562448-19563004	HepG2	liver:	n/a	n/a
8	CEBPB	chr17:19562565-19562882	HepG2	liver:	n/a	chr17:19562802-19562813
9	JUND	chr17:19562655-19562986	HepG2	liver:	n/a	n/a
10	EP300	chr17:19562537-19563028	HepG2	liver:	n/a	n/a
11	ARID3A	chr17:19562682-19562978	HepG2	liver:	n/a	n/a
12	CEBPB	chr17:19562580-19563054	ECC-1	luminal epithelium:	n/a	chr17:19562802-19562813
13	CEBPB	chr17:19562697-19562890	H1-hESC	embryonic stem cell:	n/a	chr17:19562802-19562813
14	CEBPB	chr17:19562650-19563024	ECC-1	luminal epithelium:	n/a	chr17:19562802-19562813
15	TEAD4	chr17:19562764-19563371	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr17:19562619-19562996	HepG2	liver:	n/a	chr17:19562802-19562813
17	CEBPB	chr17:19562649-19562936	Hela-S3	cervix:	n/a	chr17:19562802-19562813
18	TEAD4	chr17:19562534-19563167	HepG2	liver:	n/a	n/a
19	TCF12	chr17:19562715-19563387	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr17:19562791-19564450	HepG2	liver:	n/a	n/a
21	CEBPB	chr17:19562673-19562951	IMR90	lung:	n/a	chr17:19562802-19562813
22	CEBPB	chr17:19562645-19562935	K562	blood:	n/a	chr17:19562802-19562813
23	CEBPB	chr17:19562660-19563010	MCF-7	breast:	n/a	chr17:19562802-19562813
24	CEBPB	chr17:19562653-19562906	HepG2	liver:	n/a	chr17:19562802-19562813
25	JUN	chr17:19562666-19562859	HepG2	liver:	n/a	chr17:19562803-19562816
26	NFIC	chr17:19562667-19563385	ECC-1	luminal epithelium:	n/a	n/a
27	HDAC2	chr17:19562620-19562952	HepG2	liver:	n/a	n/a
28	CEBPB	chr17:19562541-19563111	A549	lung:	n/a	chr17:19562802-19562813
29	CEBPB	chr17:19562637-19562976	A549	lung:	n/a	chr17:19562802-19562813
30	HNF4G	chr17:19562616-19562863	HepG2	liver:	n/a	n/a
31	CEBPB	chr17:19562620-19563174	HepG2	liver:	n/a	chr17:19562802-19562813
32	TEAD4	chr17:19562727-19563354	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19549675..19554690-chr17:19558689..19564889,9	MCF-7	breast:

Variant related genes	Relation type
ALDH3A2	TF binding region
ENSG00000252349	TF binding region
ENSG00000264932	Chromatin interaction
ENSG00000072210	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9901895	1.00[AMR][1000 genomes]
rs9904172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9915966	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv2757654	chr17:19485735-19563766	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	esv2758679	chr17:19485735-19563766	Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1055361	chr17:19515267-19582503	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv1062485	chr17:19558644-19608008	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv907865	chr17:19558722-19575721	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19553200-19566800	Weak transcription	Primary B cells from cord blood	blood
2	chr17:19553200-19577400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr17:19553200-19580000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:19553400-19566400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr17:19554800-19574400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:19555000-19563400	Strong transcription	Fetal Stomach	stomach
7	chr17:19555000-19568800	Weak transcription	NH-A	brain
8	chr17:19555000-19581800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:19555000-19582800	Weak transcription	HUVEC	blood vessel
10	chr17:19555200-19566400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:19555200-19566600	Weak transcription	NHDF-Ad	bronchial
12	chr17:19555200-19569800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr17:19555200-19576400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr17:19555400-19570000	Strong transcription	Fetal Muscle Leg	muscle
15	chr17:19555600-19567200	Weak transcription	Right Atrium	heart
16	chr17:19555600-19569800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:19555600-19578600	Weak transcription	Small Intestine	intestine
18	chr17:19556200-19569800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:19556400-19563600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr17:19556600-19569800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:19557200-19569800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr17:19558000-19563600	Strong transcription	HMEC	breast
23	chr17:19558200-19568200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:19558200-19569400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr17:19558200-19569600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr17:19558200-19569800	Strong transcription	Fetal Intestine Large	intestine
27	chr17:19558400-19566600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:19558400-19566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:19558400-19567200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:19558400-19571800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr17:19558400-19579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:19558600-19569800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr17:19558800-19566800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr17:19559200-19571800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:19559200-19574200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr17:19559400-19566800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:19559400-19575000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr17:19559400-19575400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:19559600-19570800	Strong transcription	Brain Anterior Caudate	brain
40	chr17:19559600-19578600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:19559800-19563400	Weak transcription	Fetal Lung	lung
42	chr17:19559800-19564800	Weak transcription	Ovary	ovary
43	chr17:19559800-19565200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr17:19559800-19565400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:19559800-19577200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr17:19560000-19564600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:19560000-19564800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr17:19560000-19564800	Weak transcription	Osteobl	bone
49	chr17:19560000-19565400	Weak transcription	Colon Smooth Muscle	Colon
50	chr17:19560000-19565600	Weak transcription	HSMM	muscle

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