Variant report

Variant	rs188731909
Chromosome Location	chr17:19655532-19655533
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	SP1	chr17:19655324-19657005	HCT-116	colon:	n/a	chr17:19656877-19656884
2	STAT3	chr17:19655520-19655847	MCF10A-Er-Src	breast:	n/a	n/a
3	NR3C1	chr17:19655532-19656000	A549	lung:	n/a	n/a
4	NFIC	chr17:19655245-19657642	ECC-1	luminal epithelium:	n/a	n/a
5	STAT3	chr17:19655444-19655829	Hela-S3	cervix:	n/a	n/a
6	BCL3	chr17:19655518-19657605	A549	lung:	n/a	n/a
7	POLR2A	chr17:19655337-19656871	Hela-S3	cervix:	n/a	n/a
8	FOS	chr17:19655416-19655925	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr17:19655360-19657497	A549	lung:	n/a	n/a
10	JUND	chr17:19655232-19656876	A549	lung:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656544-19656554
11	TCF12	chr17:19655127-19657555	A549	lung:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
12	STAT1	chr17:19655498-19657628	Hela-S3	cervix:	n/a	chr17:19656450-19656458 chr17:19657410-19657421
13	NFIC	chr17:19655190-19656954	ECC-1	luminal epithelium:	n/a	n/a
14	FOSL2	chr17:19655170-19657625	A549	lung:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656544-19656554 chr17:19656884-19656896
15	POLR2A	chr17:19655315-19656101	Hela-S3	cervix:	n/a	n/a
16	TCF12	chr17:19655317-19657547	ECC-1	luminal epithelium:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
17	ESR1	chr17:19655170-19656116	ECC-1	luminal epithelium:	n/a	n/a
18	TCF12	chr17:19655162-19657509	ECC-1	luminal epithelium:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
19	EP300	chr17:19655204-19657697	A549	lung:	n/a	chr17:19656968-19656975
20	BCL3	chr17:19655354-19657717	A549	lung:	n/a	n/a
21	SP1	chr17:19655099-19657664	A549	lung:	n/a	chr17:19656877-19656884
22	MAX	chr17:19655250-19656006	Hela-S3	cervix:	n/a	n/a
23	NR3C1	chr17:19655424-19656187	A549	lung:	n/a	chr17:19656067-19656082
24	BHLHE40	chr17:19655484-19656735	A549	lung:	n/a	n/a
25	ESR1	chr17:19655249-19656147	ECC-1	luminal epithelium:	n/a	n/a
26	TEAD4	chr17:19655189-19656065	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr17:19655382-19655743	MCF10A-Er-Src	breast:	n/a	n/a
28	MAZ	chr17:19655421-19655597	Hela-S3	cervix:	n/a	n/a
29	MAX	chr17:19655196-19656115	ECC-1	luminal epithelium:	n/a	n/a
30	NR3C1	chr17:19655495-19656799	A549	lung:	n/a	chr17:19656067-19656082 chr17:19656545-19656554
31	FOXM1	chr17:19655151-19656179	ECC-1	luminal epithelium:	n/a	n/a
32	GTF2F1	chr17:19655480-19656041	Hela-S3	cervix:	n/a	n/a
33	MAX	chr17:19655190-19657602	A549	lung:	n/a	n/a
34	NR3C1	chr17:19655282-19656860	A549	lung:	n/a	chr17:19656067-19656082 chr17:19656545-19656554
35	RFX5	chr17:19655490-19655744	Hela-S3	cervix:	n/a	n/a
36	E2F6	chr17:19655217-19655798	A549	lung:	n/a	n/a
37	JUND	chr17:19655426-19656871	HCT-116	colon:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656544-19656554
38	E2F6	chr17:19655175-19657633	A549	lung:	n/a	n/a
39	SP1	chr17:19655142-19657550	A549	lung:	n/a	chr17:19656877-19656884
40	TBP	chr17:19655357-19655890	Hela-S3	cervix:	n/a	n/a
41	MYC	chr17:19655322-19655887	MCF10A-Er-Src	breast:	n/a	n/a
42	FOSL2	chr17:19655450-19655875	A549	lung:	n/a	n/a
43	MAX	chr17:19655176-19657680	A549	lung:	n/a	n/a
44	GATA3	chr17:19655224-19657702	A549	lung:	n/a	chr17:19656153-19656165
45	EP300	chr17:19654995-19657566	ECC-1	luminal epithelium:	n/a	chr17:19656968-19656975
46	FOS	chr17:19655422-19655924	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr17:19655522-19655911	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr17:19655375-19655930	MCF10A-Er-Src	breast:	n/a	n/a
49	SIX5	chr17:19655087-19657705	A549	lung:	n/a	chr17:19656117-19656126
50	ZKSCAN1	chr17:19655461-19655532	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67397857..67399603-chr17:19654494..19656370,2	MCF-7	breast:
2	chr11:67406449..67409216-chr17:19654457..19656822,7	MCF-7	breast:
3	chr17:19641453..19644108-chr17:19654195..19656369,2	MCF-7	breast:
4	chr11:67397006..67400354-chr17:19655005..19658242,3	MCF-7	breast:
5	chr11:67405096..67409176-chr17:19654881..19658832,8	MCF-7	breast:
6	chr11:67407271..67408048-chr17:19655503..19656398,3	MCF-7	breast:
7	chr17:19651262..19653097-chr17:19654120..19656277,2	K562	blood:
8	chr17:19649191..19653636-chr17:19654131..19659903,8	MCF-7	breast:
9	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230607	TF binding region
ALDH3A1	TF binding region
ENSG00000167799	Chromatin interaction
ENSG00000108602	Chromatin interaction
ENSG00000167800	Chromatin interaction
ENSG00000231793	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	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
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	21 gene(s)	inside rSNPs	diseases
6	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv457704	chr17:19620477-19663747	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv470582	chr17:19620477-19663747	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv574580	chr17:19620477-19663747	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv112170	chr17:19655486-19662348	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19648800-19656200	Weak transcription	Aorta	Aorta
2	chr17:19648800-19657000	Weak transcription	Spleen	Spleen
3	chr17:19649000-19656400	Weak transcription	Right Atrium	heart
4	chr17:19649200-19656200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:19650200-19656800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:19650600-19657000	Enhancers	HMEC	breast
7	chr17:19650600-19657600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:19651000-19656200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:19652000-19655800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:19652200-19655800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:19652200-19655800	Weak transcription	Brain Angular Gyrus	brain
12	chr17:19652200-19656000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:19652200-19656000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr17:19652200-19656000	Weak transcription	Osteobl	bone
15	chr17:19652400-19655600	Weak transcription	Adipose Nuclei	Adipose
16	chr17:19652400-19655600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:19652400-19655800	Weak transcription	Brain Anterior Caudate	brain
18	chr17:19652400-19655800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr17:19652400-19655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:19652400-19656200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr17:19652400-19656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:19652400-19656600	Weak transcription	Pancreas	Pancrea
23	chr17:19652600-19655600	Weak transcription	Brain Hippocampus Middle	brain
24	chr17:19652600-19655800	Weak transcription	Colonic Mucosa	Colon
25	chr17:19652600-19656000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:19652600-19656200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:19652600-19656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr17:19653400-19657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:19654400-19655800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:19654400-19658600	Enhancers	Stomach Mucosa	stomach
31	chr17:19654600-19655800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:19654600-19656000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr17:19654600-19656400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:19654600-19656400	Weak transcription	Lung	lung
35	chr17:19654800-19655800	Weak transcription	HepG2	liver
36	chr17:19654800-19656000	Weak transcription	Gastric	stomach
37	chr17:19654800-19656200	Weak transcription	GM12878-XiMat	blood
38	chr17:19655000-19656000	Enhancers	NHEK	skin
39	chr17:19655200-19657200	Enhancers	Fetal Muscle Trunk	muscle
40	chr17:19655200-19657400	Enhancers	Esophagus	oesophagus
41	chr17:19655200-19657400	Enhancers	HSMM	muscle
42	chr17:19655400-19656200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:19655400-19656200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr17:19655400-19656200	Enhancers	Stomach Smooth Muscle	stomach
45	chr17:19655400-19656400	Flanking Active TSS	A549	lung
46	chr17:19655400-19656800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:19655400-19657400	Enhancers	Brain Substantia Nigra	brain
48	chr17:19655400-19657400	Enhancers	Duodenum Mucosa	Duodenum
49	chr17:19655400-19657400	Enhancers	Fetal Muscle Leg	muscle
50	chr17:19655400-19657400	Flanking Active TSS	Hela-S3	cervix

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