Variant report

Variant	rs567448530
Chromosome Location	chr17:38599939-38599940
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	MAX	chr17:38598612-38602497	A549	lung:	n/a	chr17:38599856-38599866
2	POLR2A	chr17:38599363-38600748	A549	lung:	n/a	n/a
3	E2F6	chr17:38599584-38600309	H1-hESC	embryonic stem cell:	n/a	chr17:38599728-38599737
4	CTCF	chr17:38599912-38600266	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:38599559-38600771	A549	lung:	n/a	n/a
6	SMC3	chr17:38599933-38600285	K562	blood:	n/a	n/a
7	CTCF	chr17:38599884-38600297	H1-hESC	embryonic stem cell:	n/a	n/a
8	GABPA	chr17:38599614-38600439	H1-hESC	embryonic stem cell:	n/a	chr17:38599724-38599733 chr17:38599855-38599864
9	CEBPB	chr17:38599935-38600378	ECC-1	luminal epithelium:	n/a	chr17:38600149-38600160
10	MAX	chr17:38599629-38600175	K562	blood:	n/a	chr17:38599856-38599866
11	POLR2A	chr17:38599592-38600150	HepG2	liver:	n/a	n/a
12	RAD21	chr17:38599908-38600287	HepG2	liver:	n/a	n/a
13	E2F6	chr17:38598792-38600332	A549	lung:	n/a	chr17:38599127-38599139 chr17:38599728-38599737
14	RAD21	chr17:38599936-38600316	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr17:38599714-38600374	ECC-1	luminal epithelium:	n/a	chr17:38599856-38599866
16	E2F6	chr17:38599373-38600324	K562	blood:	n/a	chr17:38599728-38599737
17	YY1	chr17:38599920-38600193	GM12878	blood:	n/a	n/a
18	POLR2A	chr17:38599286-38601272	PFSK-1	brain:	n/a	n/a
19	RAD21	chr17:38599895-38600299	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:38599127-38601091	A549	lung:	n/a	n/a
21	JUND	chr17:38599464-38600216	A549	lung:	n/a	chr17:38599725-38599734
22	POLR2A	chr17:38599081-38600304	NB4	blood:	n/a	n/a
23	YY1	chr17:38599909-38600780	A549	lung:	n/a	n/a
24	POLR2A	chr17:38599331-38602347	IMR90	lung:	n/a	n/a
25	EBF1	chr17:38599833-38600306	GM12878	blood:	n/a	n/a
26	FOXM1	chr17:38599930-38600308	GM12878	blood:	n/a	n/a
27	CTCF	chr17:38599920-38600070	HVMF	connective:	n/a	n/a
28	TBL1XR1	chr17:38599730-38600159	K562	blood:	n/a	n/a
29	MAZ	chr17:38598638-38602479	IMR90	lung:	n/a	chr17:38599856-38599866
30	CTCF	chr17:38599845-38600381	K562	blood:	n/a	n/a
31	MAX	chr17:38599826-38600320	NB4	blood:	n/a	chr17:38599856-38599866
32	E2F6	chr17:38599418-38600204	K562	blood:	n/a	chr17:38599728-38599737
33	JUN	chr17:38599606-38600335	K562	blood:	n/a	chr17:38599725-38599734
34	MYC	chr17:38599389-38600384	NB4	blood:	n/a	chr17:38599856-38599866
35	CEBPB	chr17:38599897-38600252	HepG2	liver:	n/a	chr17:38600149-38600160
36	POLR2A	chr17:38599386-38602496	HUVEC	blood vessel:	n/a	n/a
37	ZBTB7A	chr17:38599933-38600363	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr17:38599346-38600157	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr17:38598990-38600252	K562	blood:	n/a	n/a
40	CTCF	chr17:38599930-38600265	HepG2	liver:	n/a	n/a
41	MYC	chr17:38599936-38599939	MCF-7	breast:	n/a	n/a
42	HA-E2F1	chr17:38599936-38600375	MCF-7	breast:	n/a	n/a
43	SMC3	chr17:38599162-38601066	SK-N-SH	brain:	n/a	chr17:38599730-38599740
44	MAX	chr17:38599854-38600380	ECC-1	luminal epithelium:	n/a	chr17:38599856-38599866
45	CTCF	chr17:38598478-38602583	A549	lung:	n/a	n/a
46	POLR2A	chr17:38598937-38600627	MCF-7	breast:	n/a	n/a
47	MAX	chr17:38599510-38600493	HepG2	liver:	n/a	chr17:38599856-38599866
48	POLR2A	chr17:38598935-38600621	PFSK-1	brain:	n/a	n/a
49	MAX	chr17:38598727-38600587	A549	lung:	n/a	chr17:38599856-38599866
50	E2F6	chr17:38599569-38600371	H1-hESC	embryonic stem cell:	n/a	chr17:38599728-38599737

No.	Distal block	Cell Line	Cell type
1	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
2	chr17:38516138..38520860-chr17:38599243..38602533,5	K562	blood:
3	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
4	chr17:38507026..38508719-chr17:38598987..38601879,2	K562	blood:
5	chr17:38555377..38556004-chr17:38599008..38599961,2	K562	blood:
6	chr17:38598881..38602329-chr17:38713858..38720847,8	MCF-7	breast:
7	chr17:38518063..38521220-chr17:38597683..38601473,5	MCF-7	breast:
8	chr17:38597908..38601053-chr17:38654458..38659532,5	MCF-7	breast:
9	chr17:38336165..38338939-chr17:38598006..38600043,2	MCF-7	breast:
10	chr17:38598261..38600683-chr9:136220142..136221734,2	MCF-7	breast:
11	chr17:38255561..38257319-chr17:38599585..38601482,2	K562	blood:
12	chr17:38599719..38603336-chr17:38637091..38642832,5	MCF-7	breast:
13	chr17:38599782..38601968-chr20:52556470..52558647,2	MCF-7	breast:
14	chr17:38517632..38520244-chr17:38599613..38602533,3	K562	blood:
15	chr17:38587973..38589674-chr17:38599835..38601387,2	MCF-7	breast:
16	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240125	TF binding region
ENSG00000148290	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000266208	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000131747	Chromatin interaction
ENSG00000236352	Chromatin interaction
ENSG00000126353	Chromatin interaction
ENSG00000126368	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3442525	chr17:38598451-38601299	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	esv3384974	chr17:38598726-38601149	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38584600-38600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:38598800-38600800	Active TSS	Brain Angular Gyrus	brain
3	chr17:38598800-38601400	Weak transcription	Hela-S3	cervix
4	chr17:38598800-38601800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr17:38599000-38600000	Enhancers	Primary B cells from cord blood	blood
6	chr17:38599000-38600000	Active TSS	Right Ventricle	heart
7	chr17:38599000-38600200	Bivalent/Poised TSS	Thymus	Thymus
8	chr17:38599000-38600400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr17:38599000-38601200	Active TSS	Fetal Kidney	kidney
10	chr17:38599000-38601600	Active TSS	Esophagus	oesophagus
11	chr17:38599000-38602000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:38599000-38602200	Active TSS	Brain Anterior Caudate	brain
13	chr17:38599000-38602400	Active TSS	Psoas Muscle	Psoas
14	chr17:38599000-38602800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr17:38599000-38602800	Active TSS	Ovary	ovary
16	chr17:38599200-38600200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:38599200-38600200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr17:38599200-38600200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr17:38599200-38600200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:38599200-38600200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:38599200-38600400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr17:38599200-38600400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr17:38599200-38600800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr17:38599200-38600800	Active TSS	Aorta	Aorta
25	chr17:38599200-38601200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:38599200-38601400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr17:38599200-38601800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:38599200-38601800	Enhancers	Fetal Brain Male	brain
29	chr17:38599200-38601800	Active TSS	Rectal Smooth Muscle	rectum
30	chr17:38599200-38602200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr17:38599200-38602400	Active TSS	Lung	lung
32	chr17:38599200-38602800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:38599200-38603000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:38599200-38603000	Active TSS	Right Atrium	heart
35	chr17:38599400-38600000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:38599400-38600000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:38599400-38600000	Active TSS	GM12878-XiMat	blood
38	chr17:38599400-38600200	Active TSS	H1 Cell Line	embryonic stem cell
39	chr17:38599400-38600200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:38599400-38600200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:38599400-38600200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:38599400-38600200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:38599400-38600200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:38599400-38600200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:38599400-38600200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr17:38599400-38600200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr17:38599400-38600200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr17:38599400-38600200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:38599400-38600200	Active TSS	Adipose Nuclei	Adipose
50	chr17:38599400-38600200	Active TSS	Brain Germinal Matrix	brain

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