Variant report

Variant	rs182441704
Chromosome Location	chr17:19657040-19657041
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	MYC	chr17:19656326-19657529	MCF10A-Er-Src	breast:	n/a	n/a
2	YY1	chr17:19656210-19657538	A549	lung:	n/a	chr17:19656420-19656439 chr17:19656601-19656620
3	POLR2A	chr17:19656967-19657419	A549	lung:	n/a	n/a
4	ELK4	chr17:19656411-19657313	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr17:19656926-19657504	A549	lung:	n/a	n/a
6	POLR2A	chr17:19656940-19657447	Hela-S3	cervix:	n/a	n/a
7	JUND	chr17:19656919-19657485	A549	lung:	n/a	n/a
8	ETS1	chr17:19656813-19657553	A549	lung:	n/a	chr17:19657060-19657073
9	RCOR1	chr17:19656273-19657546	Hela-S3	cervix:	n/a	n/a
10	MAX	chr17:19656103-19657637	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr17:19655245-19657642	ECC-1	luminal epithelium:	n/a	n/a
12	RAD21	chr17:19657021-19657615	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr17:19656338-19657566	Hela-S3	cervix:	n/a	n/a
14	TFAP2C	chr17:19657035-19657533	Hela-S3	cervix:	n/a	n/a
15	BCL3	chr17:19655518-19657605	A549	lung:	n/a	n/a
16	CTCF	chr17:19655567-19657796	A549	lung:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
17	MAX	chr17:19655360-19657497	A549	lung:	n/a	n/a
18	GTF2F1	chr17:19656283-19657508	Hela-S3	cervix:	n/a	n/a
19	TCF12	chr17:19655127-19657555	A549	lung:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
20	NFIC	chr17:19657018-19657540	ECC-1	luminal epithelium:	n/a	n/a
21	BRCA1	chr17:19656321-19657468	Hela-S3	cervix:	n/a	n/a
22	STAT1	chr17:19655498-19657628	Hela-S3	cervix:	n/a	chr17:19656450-19656458 chr17:19657410-19657421
23	MAX	chr17:19656936-19657461	ECC-1	luminal epithelium:	n/a	n/a
24	FOSL2	chr17:19655170-19657625	A549	lung:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656544-19656554 chr17:19656884-19656896
25	REST	chr17:19655838-19657489	A549	lung:	n/a	chr17:19657057-19657067 chr17:19656063-19656081 chr17:19656075-19656088 chr17:19656075-19656088
26	TCF12	chr17:19655317-19657547	ECC-1	luminal epithelium:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
27	SMARCC1	chr17:19655557-19657380	Hela-S3	cervix:	n/a	chr17:19656545-19656554
28	CHD2	chr17:19656207-19657517	Hela-S3	cervix:	n/a	n/a
29	TCF12	chr17:19655162-19657509	ECC-1	luminal epithelium:	n/a	chr17:19657317-19657324 chr17:19657316-19657326
30	FOS	chr17:19656265-19657485	MCF10A-Er-Src	breast:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656543-19656554 chr17:19656544-19656554 chr17:19656884-19656896
31	EP300	chr17:19655204-19657697	A549	lung:	n/a	chr17:19656968-19656975
32	CTCF	chr17:19656921-19657753	HCT-116	colon:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
33	BCL3	chr17:19655354-19657717	A549	lung:	n/a	n/a
34	TBP	chr17:19656129-19657564	Hela-S3	cervix:	n/a	n/a
35	SP1	chr17:19655099-19657664	A549	lung:	n/a	chr17:19656877-19656884
36	ELK1	chr17:19656273-19657392	Hela-S3	cervix:	n/a	n/a
37	RAD21	chr17:19656890-19657667	HCT-116	colon:	n/a	n/a
38	POLR2A	chr17:19656949-19657467	ECC-1	luminal epithelium:	n/a	n/a
39	ATF3	chr17:19655686-19657537	A549	lung:	n/a	n/a
40	CTCF	chr17:19657017-19657547	A549	lung:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
41	POLR2A	chr17:19656944-19657446	A549	lung:	n/a	n/a
42	POLR2A	chr17:19656977-19657515	HCT-116	colon:	n/a	n/a
43	POLR2A	chr17:19656939-19657435	A549	lung:	n/a	n/a
44	MAFK	chr17:19656007-19657498	Hela-S3	cervix:	n/a	chr17:19656983-19656997 chr17:19656350-19656359 chr17:19656057-19656073 chr17:19656985-19656996 chr17:19656985-19656996 chr17:19656984-19656995 chr17:19656984-19656995
45	FOS	chr17:19656286-19657440	MCF10A-Er-Src	breast:	n/a	chr17:19656544-19656554 chr17:19656545-19656553 chr17:19656389-19656396 chr17:19656543-19656554 chr17:19656544-19656554 chr17:19656884-19656896
46	SMC3	chr17:19657010-19657630	SK-N-SH	brain:	n/a	chr17:19657354-19657368
47	TEAD4	chr17:19656193-19657637	A549	lung:	n/a	n/a
48	SIN3AK20	chr17:19655842-19657513	A549	lung:	n/a	n/a
49	MAX	chr17:19655190-19657602	A549	lung:	n/a	n/a
50	RAD21	chr17:19656206-19657653	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:19621105..19622742-chr17:19656130..19658211,2	MCF-7	breast:
2	chr17:19622195..19622792-chr17:19656909..19657524,3	MCF-7	breast:
3	chr11:67397006..67400354-chr17:19655005..19658242,3	MCF-7	breast:
4	chr11:67405096..67409176-chr17:19654881..19658832,8	MCF-7	breast:
5	chr11:67139722..67141643-chr17:19656038..19657945,2	MCF-7	breast:
6	chr17:19649191..19653636-chr17:19654131..19659903,8	MCF-7	breast:
7	chr17:19657020..19657638-chr17:19669487..19670405,2	MCF-7	breast:
8	chr11:67397884..67398710-chr17:19656962..19657673,2	MCF-7	breast:
9	chr11:67382088..67384067-chr17:19655991..19658673,2	MCF-7	breast:
10	chr17:19656623..19657451-chr17:19665588..19666274,2	MCF-7	breast:
11	chr11:67149008..67150613-chr17:19656460..19658061,2	MCF-7	breast:
12	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:

Variant related genes	Relation type
ALDH3A1	TF binding region
ENSG00000230607	TF binding region
ENSG00000231793	Chromatin interaction
ENSG00000167800	Chromatin interaction
ENSG00000262681	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000180638	Chromatin interaction
ENSG00000108602	Chromatin interaction
ENSG00000256514	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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	esv13337	chr17:19655966-19662464	Enhancers Weak transcription 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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19650600-19657600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr17:19653400-19657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:19654400-19658600	Enhancers	Stomach Mucosa	stomach
4	chr17:19655200-19657200	Enhancers	Fetal Muscle Trunk	muscle
5	chr17:19655200-19657400	Enhancers	Esophagus	oesophagus
6	chr17:19655200-19657400	Enhancers	HSMM	muscle
7	chr17:19655400-19657400	Enhancers	Brain Substantia Nigra	brain
8	chr17:19655400-19657400	Enhancers	Duodenum Mucosa	Duodenum
9	chr17:19655400-19657400	Enhancers	Fetal Muscle Leg	muscle
10	chr17:19655400-19657400	Flanking Active TSS	Hela-S3	cervix
11	chr17:19655400-19657400	Enhancers	HUVEC	blood vessel
12	chr17:19655400-19657400	Enhancers	NHDF-Ad	bronchial
13	chr17:19655400-19657600	Enhancers	HSMMtube	muscle
14	chr17:19655600-19657400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:19655600-19657400	Enhancers	Adipose Nuclei	Adipose
16	chr17:19655600-19657400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr17:19655600-19657400	Enhancers	NH-A	brain
18	chr17:19655800-19657200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:19655800-19657200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:19655800-19657400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr17:19655800-19657400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:19655800-19657400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr17:19655800-19657400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:19655800-19657400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:19655800-19657400	Enhancers	Brain Angular Gyrus	brain
26	chr17:19655800-19657400	Enhancers	Brain Anterior Caudate	brain
27	chr17:19655800-19657400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr17:19656000-19657200	Flanking Active TSS	NHEK	skin
29	chr17:19656000-19657400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:19656000-19657400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr17:19656000-19657400	Enhancers	Gastric	stomach
32	chr17:19656000-19657400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr17:19656000-19657400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr17:19656000-19657600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:19656000-19657600	Enhancers	Osteobl	bone
36	chr17:19656000-19659600	Enhancers	Primary B cells from cord blood	blood
37	chr17:19656200-19657200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:19656200-19657200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:19656200-19657200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr17:19656200-19657400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr17:19656200-19657400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:19656200-19657400	Enhancers	Left Ventricle	heart
43	chr17:19656200-19657400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr17:19656200-19657600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr17:19656200-19658000	Enhancers	GM12878-XiMat	blood
46	chr17:19656400-19657400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:19656400-19659800	Enhancers	Primary B cells from peripheral blood	blood
48	chr17:19656600-19657200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr17:19656600-19657400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:19656600-19657400	Enhancers	Brain Cingulate Gyrus	brain

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