Variant report

Variant	rs57188376
Chromosome Location	chr17:38257751-38257752
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	POLR2A	chr17:38247510-38257895	HepG2	liver:	n/a	n/a
2	MYBL2	chr17:38256359-38257895	HepG2	liver:	n/a	n/a
3	USF1	chr17:38256602-38257836	HCT-116	colon:	n/a	chr17:38257297-38257310
4	MAFK	chr17:38256874-38257766	HepG2	liver:	n/a	n/a
5	NR3C1	chr17:38256629-38257826	A549	lung:	n/a	chr17:38257679-38257692
6	EP300	chr17:38256653-38257797	K562	blood:	n/a	chr17:38256670-38256686 chr17:38257698-38257714 chr17:38257573-38257582 chr17:38257672-38257688
7	FOS	chr17:38256848-38257787	MCF10A-Er-Src	breast:	n/a	chr17:38257573-38257582 chr17:38257622-38257634 chr17:38257575-38257582 chr17:38257572-38257583
8	EP300	chr17:38256761-38257854	HepG2	liver:	n/a	chr17:38257698-38257714 chr17:38257573-38257582 chr17:38257672-38257688
9	EP300	chr17:38257427-38257759	SK-N-SH_RA	brain:	n/a	chr17:38257698-38257714 chr17:38257573-38257582 chr17:38257672-38257688
10	ZBTB33	chr17:38256763-38257800	A549	lung:	n/a	n/a
11	FOSL1	chr17:38256445-38257974	HCT-116	colon:	n/a	chr17:38257573-38257582 chr17:38257622-38257634 chr17:38257575-38257582 chr17:38257572-38257583
12	HEY1	chr17:38256606-38257951	HepG2	liver:	n/a	n/a
13	HCFC1	chr17:38253428-38258087	Hela-S3	cervix:	n/a	n/a
14	JUN	chr17:38256771-38257753	K562	blood:	n/a	chr17:38257573-38257582 chr17:38257622-38257634 chr17:38257575-38257582
15	JUND	chr17:38257088-38257781	MCF-7	breast:	n/a	chr17:38257573-38257582 chr17:38257622-38257634 chr17:38257575-38257582 chr17:38257572-38257583
16	JUND	chr17:38254373-38258017	HCT-116	colon:	n/a	chr17:38257573-38257582 chr17:38255602-38255611 chr17:38255310-38255322 chr17:38255309-38255317 chr17:38257622-38257634 chr17:38255311-38255321 chr17:38257575-38257582 chr17:38255310-38255321 chr17:38255312-38255320 chr17:38257572-38257583 chr17:38255342-38255351
17	POLR2A	chr17:38254246-38257976	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr17:38255486-38257752	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr17:38256728-38257916	A549	lung:	n/a	chr17:38257698-38257714 chr17:38257573-38257582 chr17:38257672-38257688
20	SMARCB1	chr17:38255169-38257911	Hela-S3	cervix:	n/a	chr17:38257573-38257582 chr17:38255311-38255320 chr17:38257048-38257057
21	STAT3	chr17:38256780-38257827	MCF10A-Er-Src	breast:	n/a	chr17:38257574-38257583
22	SP1	chr17:38256448-38257945	A549	lung:	n/a	chr17:38257674-38257686 chr17:38257675-38257685 chr17:38257140-38257150 chr17:38257671-38257685 chr17:38257674-38257686 chr17:38257677-38257691 chr17:38257145-38257155 chr17:38256518-38256531 chr17:38257675-38257684
23	TCF7L2	chr17:38256600-38257941	Hela-S3	cervix:	n/a	chr17:38257250-38257260 chr17:38257573-38257582 chr17:38257574-38257583 chr17:38257248-38257262 chr17:38257249-38257263 chr17:38257251-38257260
24	MAZ	chr17:38257611-38257807	GM12878	blood:	n/a	chr17:38257669-38257679
25	EGR1	chr17:38257309-38257810	MCF-7	breast:	n/a	chr17:38257546-38257560 chr17:38257679-38257689 chr17:38257676-38257689
26	FOXA2	chr17:38256764-38257900	A549	lung:	n/a	n/a
27	JUND	chr17:38256620-38257759	H1-hESC	embryonic stem cell:	n/a	chr17:38257573-38257582 chr17:38257622-38257634 chr17:38257575-38257582 chr17:38257572-38257583
28	MXI1	chr17:38254247-38257825	SK-N-SH	brain:	n/a	chr17:38255410-38255419 chr17:38255587-38255602
29	GABPA	chr17:38256500-38257801	A549	lung:	n/a	chr17:38256890-38256904 chr17:38257017-38257031 chr17:38257020-38257034 chr17:38257022-38257031 chr17:38257020-38257031 chr17:38256893-38256904 chr17:38256893-38256902
30	MAFK	chr17:38256636-38257754	Hela-S3	cervix:	n/a	n/a
31	GATA3	chr17:38256329-38257980	A549	lung:	n/a	chr17:38256758-38256767 chr17:38257425-38257435
32	NFIC	chr17:38256375-38257895	HepG2	liver:	n/a	n/a
33	HDAC2	chr17:38256954-38257809	HepG2	liver:	n/a	chr17:38257415-38257423 chr17:38257422-38257436
34	NFIC	chr17:38256598-38258009	HepG2	liver:	n/a	n/a
35	POLR2A	chr17:38253989-38257950	HCT-116	colon:	n/a	n/a
36	NFIC	chr17:38256935-38257813	GM12878	blood:	n/a	n/a
37	SIX5	chr17:38255423-38258048	A549	lung:	n/a	chr17:38257046-38257055 chr17:38257535-38257551 chr17:38257048-38257057
38	POLR2A	chr17:38253645-38257815	U87	brain:	n/a	n/a
39	JUN	chr17:38257228-38257782	HepG2	liver:	n/a	chr17:38257573-38257582 chr17:38257622-38257634 chr17:38257575-38257582
40	ELF1	chr17:38256443-38257770	A549	lung:	n/a	chr17:38256667-38256679 chr17:38256742-38256753
41	FOSL2	chr17:38256748-38257932	HepG2	liver:	n/a	chr17:38257573-38257582 chr17:38257622-38257634 chr17:38257575-38257582
42	TEAD4	chr17:38256656-38257766	K562	blood:	n/a	n/a
43	MAX	chr17:38256251-38258018	HepG2	liver:	n/a	chr17:38256926-38256935 chr17:38257669-38257679 chr17:38257300-38257309
44	TEAD4	chr17:38256704-38258030	HepG2	liver:	n/a	n/a
45	ZC3H11A	chr17:38256806-38257812	K562	blood:	n/a	n/a
46	RCOR1	chr17:38256591-38257850	HepG2	liver:	n/a	n/a
47	CEBPB	chr17:38257275-38257914	GM12878	blood:	n/a	n/a
48	FOSL2	chr17:38257366-38257821	MCF-7	breast:	n/a	chr17:38257573-38257582 chr17:38257622-38257634 chr17:38257575-38257582
49	SP1	chr17:38256164-38258042	HCT-116	colon:	n/a	chr17:38257674-38257686 chr17:38257675-38257685 chr17:38256433-38256447 chr17:38257140-38257150 chr17:38257671-38257685 chr17:38257674-38257686 chr17:38257677-38257691 chr17:38257145-38257155 chr17:38256518-38256531 chr17:38257675-38257684
50	EP300	chr17:38256294-38257861	HepG2	liver:	n/a	chr17:38256441-38256454 chr17:38256670-38256686 chr17:38257698-38257714 chr17:38257573-38257582 chr17:38257672-38257688

No.	Distal block	Cell Line	Cell type
1	chr17:38255224..38257824-chr17:38294998..38297075,3	MCF-7	breast:
2	chr17:38255995..38257777-chr17:38317199..38319011,2	K562	blood:
3	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
4	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
5	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
6	chr17:38253967..38258330-chr17:38333170..38336526,4	MCF-7	breast:
7	chr17:38257297..38260164-chr17:38470426..38472629,2	MCF-7	breast:
8	chr17:38223608..38228220-chr17:38255265..38258726,4	MCF-7	breast:
9	chr17:38219115..38220777-chr17:38255846..38258790,2	MCF-7	breast:
10	chr17:38255988..38258755-chr17:38294920..38298049,5	MCF-7	breast:
11	chr17:38257287..38258183-chr2:20646387..20646981,2	Hela-S3	cervix:
12	chr17:38224768..38231268-chr17:38252636..38258126,7	K562	blood:

Variant related genes	Relation type
NR1D1	TF binding region
ENSG00000108352	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000188895	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10512481	0.82[AFR][1000 genomes]
rs57795122	0.86[AFR][1000 genomes]
rs58539907	0.86[AFR][1000 genomes]
rs61093245	0.86[AFR][1000 genomes]

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	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv520636	chr17:38254689-38264197	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv528369	chr17:38256693-38289003	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 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	chr17:38254200-38257800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr17:38254400-38257800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:38254800-38257800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:38254800-38257800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr17:38255000-38257800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr17:38255600-38257800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr17:38255600-38257800	Flanking Active TSS	HUVEC	blood vessel
8	chr17:38255600-38258000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr17:38255600-38258000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr17:38255800-38257800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr17:38255800-38257800	Flanking Active TSS	K562	blood
12	chr17:38256600-38257800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr17:38256800-38258000	Enhancers	Fetal Heart	heart
14	chr17:38256800-38258200	Enhancers	Lung	lung
15	chr17:38256800-38258800	Enhancers	Spleen	Spleen
16	chr17:38256800-38269800	Weak transcription	Aorta	Aorta
17	chr17:38257000-38257800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr17:38257000-38257800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:38257000-38257800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr17:38257000-38257800	Flanking Active TSS	Stomach Mucosa	stomach
21	chr17:38257000-38258000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:38257000-38258000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr17:38257000-38258600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr17:38257000-38259200	Weak transcription	Gastric	stomach
25	chr17:38257000-38261800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr17:38257200-38257800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr17:38257200-38257800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:38257200-38257800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr17:38257200-38257800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:38257200-38257800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr17:38257200-38257800	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr17:38257200-38257800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr17:38257200-38257800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr17:38257200-38257800	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr17:38257200-38257800	Flanking Active TSS	HMEC	breast
36	chr17:38257200-38257800	Flanking Active TSS	NHEK	skin
37	chr17:38257200-38257800	Flanking Active TSS	NHLF	lung
38	chr17:38257200-38258000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:38257200-38258000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:38257200-38258000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:38257200-38258000	Flanking Active TSS	Liver	Liver
42	chr17:38257200-38258000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr17:38257200-38258000	Flanking Active TSS	HSMM	muscle
44	chr17:38257200-38258000	Flanking Active TSS	NH-A	brain
45	chr17:38257200-38258000	Flanking Active TSS	Osteobl	bone
46	chr17:38257200-38258200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr17:38257200-38258400	Flanking Active TSS	Hela-S3	cervix
48	chr17:38257400-38257800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr17:38257400-38257800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:38257400-38257800	Enhancers	Cortex derived primary cultured neurospheres	brain

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