Variant report

Variant	rs560092065
Chromosome Location	chr17:20945895-20945896
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	YY1	chr17:20945816-20946576	K562	blood:	n/a	chr17:20945907-20945916
2	POLR2A	chr17:20945052-20947138	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:20945719-20946419	H1-hESC	embryonic stem cell:	n/a	n/a
4	WRNIP1	chr17:20945871-20946021	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr17:20945481-20946029	K562	blood:	n/a	n/a
6	GATA3	chr17:20945362-20946101	SK-N-SH	brain:	n/a	chr17:20945895-20945905
7	TAF1	chr17:20945787-20946549	A549	lung:	n/a	n/a
8	POLR2A	chr17:20944860-20947396	MCF10A-Er-Src	breast:	n/a	n/a
9	TBP	chr17:20945386-20947564	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr17:20945762-20947291	HepG2	liver:	n/a	chr17:20945907-20945916 chr17:20946738-20946747
11	CREB1	chr17:20945327-20947310	HepG2	liver:	n/a	chr17:20946426-20946439
12	HCFC1	chr17:20944772-20947770	Hela-S3	cervix:	n/a	n/a
13	MAX	chr17:20945845-20947274	HepG2	liver:	n/a	chr17:20946736-20946746 chr17:20946441-20946451 chr17:20947006-20947016
14	POLR2A	chr17:20942886-20947504	HepG2	liver:	n/a	n/a
15	TAF1	chr17:20945752-20947694	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr17:20945039-20947528	GM12892	blood:	n/a	n/a
17	MAX	chr17:20944891-20947596	A549	lung:	n/a	chr17:20946736-20946746 chr17:20946441-20946451 chr17:20947006-20947016
18	REST	chr17:20944693-20947916	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr17:20945803-20947681	PBDE	blood:	n/a	n/a
20	TAF1	chr17:20945398-20946054	K562	blood:	n/a	n/a
21	JUN	chr17:20945313-20947728	K562	blood:	n/a	chr17:20946617-20946626 chr17:20946618-20946627 chr17:20946428-20946437 chr17:20946619-20946628 chr17:20946613-20946622 chr17:20946440-20946449 chr17:20946438-20946447 chr17:20946614-20946623 chr17:20946437-20946446 chr17:20946439-20946448 chr17:20946615-20946624 chr17:20946734-20946743 chr17:20946616-20946625
22	GATA3	chr17:20945219-20947400	A549	lung:	n/a	chr17:20945895-20945905
23	REST	chr17:20945333-20946085	A549	lung:	n/a	n/a
24	CEBPD	chr17:20945432-20945998	K562	blood:	n/a	n/a
25	POLR2A	chr17:20945718-20946409	GM12892	blood:	n/a	n/a
26	UBTF	chr17:20945244-20946477	K562	blood:	n/a	n/a
27	TCF3	chr17:20945811-20946525	GM12878	blood:	n/a	n/a
28	FOXP2	chr17:20945871-20947112	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr17:20945362-20947147	HCT-116	colon:	n/a	n/a
30	CHD2	chr17:20945443-20947183	K562	blood:	n/a	n/a
31	TAF1	chr17:20945355-20946575	SK-N-SH	brain:	n/a	n/a
32	MAZ	chr17:20945444-20947184	Hela-S3	cervix:	n/a	chr17:20946736-20946746 chr17:20946441-20946451 chr17:20947006-20947016
33	CHD2	chr17:20945393-20947549	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:20945153-20947238	ProgFib	skin:	n/a	n/a
35	POLR2A	chr17:20944180-20947253	MCF10A-Er-Src	breast:	n/a	n/a
36	MAX	chr17:20945887-20947283	ECC-1	luminal epithelium:	n/a	chr17:20946736-20946746 chr17:20946441-20946451 chr17:20947006-20947016
37	IRF1	chr17:20945403-20947732	K562	blood:	n/a	chr17:20946820-20946834 chr17:20946573-20946587
38	POLR2A	chr17:20945697-20946395	SK-N-SH	brain:	n/a	n/a
39	TCF12	chr17:20945201-20947341	A549	lung:	n/a	n/a
40	POLR2A	chr17:20945310-20946440	SK-N-SH	brain:	n/a	n/a
41	GATA2	chr17:20945534-20946233	HUVEC	blood vessel:	n/a	chr17:20945895-20945905
42	ZMIZ1	chr17:20945522-20946434	K562	blood:	n/a	n/a
43	TCF7L2	chr17:20945829-20946439	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr17:20944860-20947507	K562	blood:	n/a	n/a
45	CHD1	chr17:20945800-20946227	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr17:20945048-20947501	GM15510	blood:	n/a	n/a
47	MAX	chr17:20945400-20947247	GM12878	blood:	n/a	chr17:20946736-20946746 chr17:20946441-20946451 chr17:20947006-20947016
48	POLR2A	chr17:20945813-20947126	A549	lung:	n/a	n/a
49	YY1	chr17:20945790-20946514	GM12878	blood:	n/a	chr17:20945907-20945916
50	POLR2A	chr17:20945697-20946486	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:20944673..20948329-chr17:21154326..21157645,3	K562	blood:
2	chr17:20923323..20925346-chr17:20944193..20946472,2	MCF-7	breast:
3	chr17:20923120..20926842-chr17:20942462..20946048,5	K562	blood:
4	chr17:20945209..20948329-chr17:21154326..21158276,3	K562	blood:
5	chr17:20945081..20946975-chr17:20977451..20979833,2	MCF-7	breast:
6	chr17:20944286..20948317-chr17:21114820..21119740,4	K562	blood:
7	chr17:20922289..20926435-chr17:20942892..20947042,7	MCF-7	breast:
8	chr17:20944908..20949288-chr17:21027831..21032603,8	MCF-7	breast:
9	chr17:20942946..20947008-chr17:21027887..21030893,3	K562	blood:
10	chr17:20945487..20946099-chr9:139743627..139744315,2	HCT-116	colon:
11	chr17:20945722..20946346-chr8:145047633..145048614,2	HCT-116	colon:

Variant related genes	Relation type
USP22	TF binding region
ENSG00000054148	Chromatin interaction
ENSG00000154035	Chromatin interaction
ENSG00000109016	Chromatin interaction
ENSG00000235530	Chromatin interaction
ENSG00000178307	Chromatin interaction
ENSG00000178209	Chromatin interaction
ENSG00000124422	Chromatin interaction
ENSG00000236819	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	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv827918	chr17:20941127-20951156	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv827921	chr17:20943553-20951115	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	esv3398246	chr17:20944985-20947533	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv15620	chr17:20945133-20947213	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv1825762	chr17:20945289-20946969	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
9	esv3354191	chr17:20945385-20947933	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
10	esv3352692	chr17:20945510-20947908	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	esv1826241	chr17:20945887-20946969	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20943000-20947200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr17:20943200-20947200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:20943200-20947200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr17:20943200-20947200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:20943400-20947200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:20943400-20947200	Active TSS	Aorta	Aorta
7	chr17:20943400-20947200	Active TSS	Brain Angular Gyrus	brain
8	chr17:20943400-20947200	Active TSS	Ovary	ovary
9	chr17:20943400-20947200	Active TSS	GM12878-XiMat	blood
10	chr17:20943400-20947200	Active TSS	NHDF-Ad	bronchial
11	chr17:20943400-20947400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:20943400-20947400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr17:20943600-20947000	Active TSS	Colonic Mucosa	Colon
14	chr17:20943600-20947200	Active TSS	HSMMtube	muscle
15	chr17:20943600-20947600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:20943600-20947800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr17:20943600-20947800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr17:20943800-20946800	Active TSS	HMEC	breast
19	chr17:20943800-20947000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:20943800-20947000	Active TSS	HSMM	muscle
21	chr17:20943800-20947000	Active TSS	NH-A	brain
22	chr17:20943800-20947200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:20943800-20947200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr17:20943800-20947200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:20943800-20947200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:20943800-20947200	Active TSS	Fetal Brain Female	brain
27	chr17:20943800-20947200	Active TSS	Fetal Intestine Small	intestine
28	chr17:20943800-20947200	Active TSS	Fetal Kidney	kidney
29	chr17:20943800-20947200	Active TSS	Psoas Muscle	Psoas
30	chr17:20943800-20947200	Active TSS	Stomach Smooth Muscle	stomach
31	chr17:20943800-20947200	Active TSS	NHLF	lung
32	chr17:20943800-20947400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr17:20943800-20947400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:20943800-20947400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr17:20943800-20947600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr17:20944000-20947000	Active TSS	Small Intestine	intestine
37	chr17:20944000-20947200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:20944000-20947200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:20944000-20947200	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr17:20944000-20947200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:20944000-20947200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr17:20944000-20947200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr17:20944000-20947200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr17:20944000-20947200	Active TSS	Pancreas	Pancrea
45	chr17:20944000-20947200	Active TSS	A549	lung
46	chr17:20944000-20947200	Active TSS	NHEK	skin
47	chr17:20944000-20947400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:20944000-20947400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr17:20944000-20947800	Active TSS	Gastric	stomach
50	chr17:20944200-20947000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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