Variant report

Variant	rs558369174
Chromosome Location	chr6:131384937-131384938
allele	G/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	TBP	chr6:131384181-131385001	HepG2	liver:	n/a	n/a
2	MAX	chr6:131383524-131385283	A549	lung:	n/a	chr6:131383712-131383721
3	ATF2	chr6:131384651-131385318	GM12878	blood:	n/a	n/a
4	EGR1	chr6:131384109-131385122	HCT-116	colon:	n/a	chr6:131384522-131384536 chr6:131384134-131384147 chr6:131384133-131384143
5	MAFK	chr6:131384674-131384952	HepG2	liver:	n/a	chr6:131384718-131384729 chr6:131384717-131384733
6	POLR2A	chr6:131384131-131385219	GM19193	blood:	n/a	n/a
7	PAX5	chr6:131384788-131385266	GM12878	blood:	n/a	chr6:131384961-131384988
8	SMC3	chr6:131384708-131385080	GM12878	blood:	n/a	n/a
9	GATA2	chr6:131384303-131385141	HUVEC	blood vessel:	n/a	n/a
10	RUNX3	chr6:131384198-131385284	GM12878	blood:	n/a	n/a
11	RCOR1	chr6:131384179-131385092	HepG2	liver:	n/a	n/a
12	NFIC	chr6:131384333-131385378	GM12878	blood:	n/a	n/a
13	RCOR1	chr6:131383973-131384982	K562	blood:	n/a	n/a
14	MXI1	chr6:131384163-131385274	GM12878	blood:	n/a	n/a
15	RELA	chr6:131384175-131385192	GM15510	blood:	n/a	chr6:131384898-131384907 chr6:131384898-131384907
16	MAZ	chr6:131382443-131385497	IMR90	lung:	n/a	chr6:131383712-131383721
17	MAX	chr6:131384706-131385209	A549	lung:	n/a	n/a
18	TEAD4	chr6:131384096-131385080	HepG2	liver:	n/a	n/a
19	RELA	chr6:131384214-131385233	GM18951	blood:	n/a	chr6:131384898-131384907 chr6:131384898-131384907
20	FOS	chr6:131384456-131385092	HUVEC	blood vessel:	n/a	chr6:131384722-131384734
21	CHD2	chr6:131384252-131384973	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAZ	chr6:131383386-131385101	HepG2	liver:	n/a	chr6:131383712-131383721
23	POLR2A	chr6:131384079-131384974	Gliobla	brain:	n/a	n/a
24	KAP1	chr6:131384490-131385299	U2OS	brain:	n/a	n/a
25	CREB1	chr6:131384003-131385315	HepG2	liver:	n/a	n/a
26	BCL3	chr6:131384847-131385229	GM12878	blood:	n/a	chr6:131384897-131384906 chr6:131384896-131384905
27	RCOR1	chr6:131384234-131385423	GM12878	blood:	n/a	n/a
28	SP1	chr6:131384800-131385339	GM12878	blood:	n/a	n/a
29	MAX	chr6:131384905-131385353	HepG2	liver:	n/a	n/a
30	FOXM1	chr6:131384674-131385357	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:131384138-131385023	HCT-116	colon:	n/a	n/a
32	MTA3	chr6:131384496-131385231	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:131384135-131385235	HepG2	liver:	n/a	n/a
34	MYBL2	chr6:131384130-131385337	HepG2	liver:	n/a	n/a
35	TCF12	chr6:131383992-131385032	A549	lung:	n/a	n/a
36	MAZ	chr6:131383468-131385208	K562	blood:	n/a	chr6:131383712-131383721
37	POLR2A	chr6:131384060-131384995	U87	brain:	n/a	n/a
38	KAP1	chr6:131384604-131385390	HEK293	kidney:	n/a	n/a
39	BCL11A	chr6:131384800-131385269	GM12878	blood:	n/a	chr6:131384897-131384906 chr6:131384896-131384905
40	POLR2A	chr6:131384060-131385018	U87	brain:	n/a	n/a
41	MAFK	chr6:131384404-131385014	Hela-S3	cervix:	n/a	chr6:131384718-131384729 chr6:131384717-131384733
42	WRNIP1	chr6:131384593-131385236	GM12878	blood:	n/a	n/a
43	ATF2	chr6:131384535-131385286	GM12878	blood:	n/a	n/a
44	RELA	chr6:131384239-131385226	GM12878	blood:	n/a	chr6:131384898-131384907 chr6:131384898-131384907
45	POLR2A	chr6:131384135-131385307	GM12878	blood:	n/a	n/a
46	EP300	chr6:131384264-131384940	HepG2	liver:	n/a	chr6:131384336-131384352 chr6:131384337-131384353 chr6:131384572-131384588
47	BATF	chr6:131384817-131385312	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:131384151-131384989	ProgFib	skin:	n/a	n/a
49	MAX	chr6:131383321-131385376	HepG2	liver:	n/a	chr6:131383712-131383721
50	ELF1	chr6:131383847-131385024	HepG2	liver:	n/a	chr6:131384158-131384170

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131380112..131382721-chr6:131384592..131387517,3	K562	blood:
2	chr6:131383272..131386235-chr6:131948272..131950497,3	MCF-7	breast:

Variant related genes	Relation type
EPB41L2	TF binding region
ENSG00000112282	Chromatin interaction
ENSG00000154269	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv3370421	chr6:131383359-131385457	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 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	chr6:131381600-131385000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:131381800-131385000	Active TSS	Ovary	ovary
3	chr6:131381800-131385200	Active TSS	Brain Anterior Caudate	brain
4	chr6:131382000-131385000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:131382000-131385000	Active TSS	Brain Substantia Nigra	brain
6	chr6:131382200-131385000	Active TSS	Right Atrium	heart
7	chr6:131382200-131385200	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:131382600-131385000	Active TSS	Fetal Kidney	kidney
9	chr6:131382600-131385200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:131382600-131385200	Active TSS	Right Ventricle	heart
11	chr6:131382800-131385000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:131382800-131385200	Active TSS	Aorta	Aorta
13	chr6:131383000-131385000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:131383000-131385000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:131383000-131385000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:131383000-131385000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:131383000-131385000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:131383000-131385000	Active TSS	Lung	lung
19	chr6:131383000-131385200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:131383000-131385200	Active TSS	Psoas Muscle	Psoas
21	chr6:131383000-131385200	Active TSS	Thymus	Thymus
22	chr6:131383000-131385400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr6:131383200-131385000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:131383200-131385000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:131383200-131385000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr6:131383200-131385000	Active TSS	Small Intestine	intestine
27	chr6:131383200-131385200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr6:131383400-131385000	Active TSS	Gastric	stomach
29	chr6:131383400-131385200	Active TSS	Esophagus	oesophagus
30	chr6:131384000-131385000	Active TSS	Fetal Brain Female	brain
31	chr6:131384200-131385200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:131384400-131385000	Active TSS	Brain Germinal Matrix	brain
33	chr6:131384600-131385000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:131384600-131385000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr6:131384600-131385000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr6:131384600-131385000	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr6:131384600-131385000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr6:131384600-131385000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:131384600-131385000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:131384600-131385000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr6:131384600-131385000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:131384600-131385000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr6:131384600-131385000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:131384600-131385000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:131384600-131385000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:131384600-131385000	Enhancers	Fetal Brain Male	brain
47	chr6:131384600-131385000	Flanking Active TSS	K562	blood
48	chr6:131384600-131385000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr6:131384600-131385200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr6:131384600-131385200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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