Variant report

Variant	rs17063315
Chromosome Location	chr6:134373918-134373919
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	POLR2A	chr6:134373289-134374108	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFYA	chr6:134373721-134373921	Hela-S3	cervix:	n/a	n/a
3	NFYA	chr6:134373436-134374092	K562	blood:	n/a	n/a
4	TBL1XR1	chr6:134373894-134374065	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr6:134373551-134374055	K562	blood:	n/a	n/a
6	MXI1	chr6:134372669-134374334	SK-N-SH	brain:	n/a	n/a
7	SP1	chr6:134373543-134374052	A549	lung:	n/a	chr6:134373841-134373853
8	ATF1	chr6:134373595-134374152	K562	blood:	n/a	n/a
9	MYC	chr6:134373241-134373941	K562	blood:	n/a	chr6:134373836-134373846
10	FOS	chr6:134373631-134374135	HUVEC	blood vessel:	n/a	chr6:134373851-134373863 chr6:134373853-134373861 chr6:134373851-134373862
11	TBP	chr6:134373371-134374086	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr6:134373640-134373977	A549	lung:	n/a	n/a
13	IRF3	chr6:134373803-134374180	GM12878	blood:	n/a	chr6:134373986-134373999
14	MXI1	chr6:134373467-134373947	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr6:134373587-134374014	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr6:134373360-134374163	H1-hESC	embryonic stem cell:	n/a	chr6:134373851-134373863 chr6:134373853-134373861
17	RCOR1	chr6:134373204-134374445	K562	blood:	n/a	n/a
18	CHD2	chr6:134373662-134373980	GM12878	blood:	n/a	n/a
19	RFX5	chr6:134373686-134373947	Hela-S3	cervix:	n/a	chr6:134373808-134373823
20	POLR2A	chr6:134373202-134374032	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF143	chr6:134373544-134374072	H1-hESC	embryonic stem cell:	n/a	n/a
22	FOS	chr6:134373704-134374017	MCF10A-Er-Src	breast:	n/a	chr6:134373851-134373863 chr6:134373853-134373861 chr6:134373851-134373862
23	JUND	chr6:134372984-134374308	SK-N-SH	brain:	n/a	chr6:134373851-134373863 chr6:134373853-134373861
24	CREB1	chr6:134373385-134374145	H1-hESC	embryonic stem cell:	n/a	n/a
25	GATA3	chr6:134373787-134374097	T-47D	breast:	n/a	n/a
26	KAP1	chr6:134373103-134374241	HEK293	kidney:	n/a	n/a
27	BHLHE40	chr6:134372988-134373947	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:134373152-134374297	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF143	chr6:134373731-134373958	K562	blood:	n/a	n/a
30	NFYB	chr6:134373578-134374252	GM12878	blood:	n/a	n/a
31	RFX5	chr6:134372644-134374808	SK-N-SH	brain:	n/a	chr6:134373808-134373823
32	FOSL2	chr6:134373613-134373990	HepG2	liver:	n/a	chr6:134373851-134373863 chr6:134373853-134373861
33	RFX5	chr6:134372938-134374212	K562	blood:	n/a	chr6:134373808-134373823
34	FOS	chr6:134373678-134373919	MCF10A-Er-Src	breast:	n/a	chr6:134373851-134373863 chr6:134373853-134373861 chr6:134373851-134373862
35	POLR2A	chr6:134373577-134373974	SK-N-SH	brain:	n/a	n/a
36	GATA2	chr6:134373354-134374173	SH-SY5Y	brain:	n/a	n/a
37	NFYB	chr6:134373679-134373951	Hela-S3	cervix:	n/a	n/a
38	TBP	chr6:134373385-134374047	K562	blood:	n/a	n/a
39	NRF1	chr6:134373836-134374014	GM12878	blood:	n/a	n/a
40	KAP1	chr6:134372894-134374422	U2OS	brain:	n/a	n/a
41	CREB1	chr6:134373272-134374129	GM12878	blood:	n/a	n/a
42	IRF1	chr6:134373265-134374040	K562	blood:	n/a	chr6:134373986-134373999
43	SIN3A	chr6:134373152-134374069	H1-hESC	embryonic stem cell:	n/a	chr6:134373305-134373313
44	POLR2A	chr6:134373386-134373987	HCT-116	colon:	n/a	n/a
45	TEAD4	chr6:134373590-134374058	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr6:134373238-134374123	K562	blood:	n/a	n/a
47	ZMIZ1	chr6:134373512-134373971	K562	blood:	n/a	n/a
48	FOSL1	chr6:134373644-134374035	K562	blood:	n/a	chr6:134373851-134373863 chr6:134373853-134373861
49	SP1	chr6:134373437-134374146	H1-hESC	embryonic stem cell:	n/a	chr6:134373841-134373853
50	GATA3	chr6:134373880-134374242	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134273314..134277341-chr6:134371733..134374606,4	K562	blood:
2	chr6:134351987..134354172-chr6:134373836..134375397,2	K562	blood:

Variant related genes	Relation type
SLC2A12	TF binding region
ENSG00000028839	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17063308	1.00[CEU][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916329	0.95[EUR][1000 genomes]
rs6941795	0.87[EUR][1000 genomes]
rs73776510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376004	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134371800-134374000	Active TSS	Left Ventricle	heart
2	chr6:134371800-134374200	Active TSS	Right Atrium	heart
3	chr6:134372000-134374000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:134372400-134374000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:134372400-134374000	Active TSS	Right Ventricle	heart
6	chr6:134372400-134374200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:134372600-134374000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:134372600-134374000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr6:134372600-134374200	Active TSS	Brain Angular Gyrus	brain
10	chr6:134372600-134374200	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:134372800-134374000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:134372800-134374000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:134372800-134374000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:134372800-134374000	Active TSS	Brain Hippocampus Middle	brain
15	chr6:134372800-134374000	Active TSS	Fetal Stomach	stomach
16	chr6:134372800-134374000	Active TSS	Psoas Muscle	Psoas
17	chr6:134372800-134374200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:134372800-134374200	Active TSS	Fetal Brain Female	brain
19	chr6:134372800-134374200	Active TSS	Rectal Smooth Muscle	rectum
20	chr6:134373000-134374000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr6:134373000-134374000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:134373000-134374000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:134373000-134374000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:134373000-134374000	Active TSS	Primary T cells from cord blood	blood
25	chr6:134373000-134374000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr6:134373000-134374000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:134373000-134374000	Active TSS	Aorta	Aorta
28	chr6:134373000-134374000	Active TSS	Brain Germinal Matrix	brain
29	chr6:134373000-134374000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:134373000-134374000	Active TSS	Brain Substantia Nigra	brain
31	chr6:134373000-134374000	Active TSS	Colon Smooth Muscle	Colon
32	chr6:134373000-134374000	Active TSS	Fetal Intestine Large	intestine
33	chr6:134373000-134374000	Active TSS	Fetal Muscle Trunk	muscle
34	chr6:134373000-134374000	Active TSS	Fetal Muscle Leg	muscle
35	chr6:134373000-134374000	Active TSS	Ovary	ovary
36	chr6:134373000-134374000	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr6:134373000-134374000	Active TSS	HSMM	muscle
38	chr6:134373000-134374000	Active TSS	NHDF-Ad	bronchial
39	chr6:134373000-134374200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:134373200-134374000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr6:134373200-134374000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:134373200-134374000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:134373200-134374000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:134373200-134374000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:134373200-134374000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:134373200-134374000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:134373200-134374000	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr6:134373200-134374000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr6:134373200-134374000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:134373200-134374000	Active TSS	Primary T helper cells PMA-I stimulated	--

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