Variant report

Variant	rs17063199
Chromosome Location	chr6:134273139-134273140
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:134273100-134273250	GM12864	blood:	n/a	n/a
2	CTCF	chr6:134273060-134273210	NHEK	skin:	n/a	n/a
3	NFYB	chr6:134272956-134273204	Hela-S3	cervix:	n/a	chr6:134273088-134273103 chr6:134273085-134273100 chr6:134273088-134273103 chr6:134273088-134273102 chr6:134273090-134273100
4	CTCF	chr6:134273080-134273230	GM06990	blood:	n/a	n/a
5	CTCF	chr6:134273120-134273270	AG09309	skin:	n/a	n/a
6	CTCF	chr6:134273133-134273216	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr6:134273108-134274868	Hela-S3	cervix:	n/a	chr6:134273783-134273792
8	TBL1XR1	chr6:134272991-134273157	K562	blood:	n/a	n/a
9	YY1	chr6:134273013-134273360	GM12891	blood:	n/a	n/a
10	POLR2A	chr6:134273095-134273395	A549	lung:	n/a	n/a
11	CTCF	chr6:134273080-134273230	HCFaa	heart:	n/a	n/a
12	TCF7L2	chr6:134272872-134273746	PANC-1	pancreas:	n/a	n/a
13	TAF1	chr6:134273092-134273248	GM12892	blood:	n/a	n/a
14	POLR2A	chr6:134273016-134274744	PFSK-1	brain:	n/a	n/a
15	CTCF	chr6:134273100-134273250	HVMF	connective:	n/a	n/a
16	CTCF	chr6:134273100-134273250	HAc	cerebellar:	n/a	n/a
17	MXI1	chr6:134272992-134274682	HepG2	liver:	n/a	n/a
18	CTCF	chr6:134273080-134273230	A549	lung:	n/a	n/a
19	POLR2A	chr6:134273033-134273753	ECC-1	luminal epithelium:	n/a	n/a
20	JUND	chr6:134273119-134274571	K562	blood:	n/a	n/a
21	POLR2A	chr6:134273010-134274668	K562	blood:	n/a	n/a
22	CTCF	chr6:134273080-134273230	HRE	kidney:	n/a	n/a
23	CTCF	chr6:134273100-134273250	RPTEC	kidney:	n/a	n/a
24	NFIC	chr6:134272987-134274455	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:134272881-134274732	GM18951	blood:	n/a	n/a
26	CTCF	chr6:134273080-134273230	GM12873	blood:	n/a	n/a
27	NFIC	chr6:134273001-134274602	GM12878	blood:	n/a	n/a
28	BHLHE40	chr6:134272994-134274455	GM12878	blood:	n/a	n/a
29	MXI1	chr6:134273009-134273677	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:134273043-134273810	GM12891	blood:	n/a	n/a
31	MAX	chr6:134273055-134273795	Hela-S3	cervix:	n/a	n/a
32	YY1	chr6:134272917-134273635	HepG2	liver:	n/a	n/a
33	ZBTB7A	chr6:134273010-134273565	K562	blood:	n/a	n/a
34	MAX	chr6:134272996-134274912	HepG2	liver:	n/a	chr6:134274197-134274207 chr6:134274440-134274449 chr6:134274689-134274699
35	ZBTB7A	chr6:134273053-134273551	K562	blood:	n/a	n/a
36	POLR2A	chr6:134273099-134273876	Gliobla	brain:	n/a	n/a
37	HEY1	chr6:134272931-134274541	HepG2	liver:	n/a	chr6:134274513-134274528 chr6:134274519-134274534
38	POLR2A	chr6:134272923-134273780	GM12878	blood:	n/a	n/a
39	CTCF	chr6:134273080-134273230	HCM	heart:	n/a	n/a
40	REST	chr6:134272984-134273320	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr6:134273080-134273230	GM12875	blood:	n/a	n/a
42	CTCF	chr6:134273100-134273250	BE2_C	brain:	n/a	n/a
43	POLR2A	chr6:134273021-134274934	HepG2	liver:	n/a	n/a
44	CTCF	chr6:134273100-134273250	HMF	breast:	n/a	n/a
45	ZNF384	chr6:134272870-134274460	K562	blood:	n/a	chr6:134272950-134272958
46	HEY1	chr6:134273046-134273473	K562	blood:	n/a	n/a
47	MAZ	chr6:134272821-134274582	GM12878	blood:	n/a	chr6:134274197-134274207 chr6:134274440-134274449
48	YY1	chr6:134272990-134273294	GM12892	blood:	n/a	n/a
49	POLR2A	chr6:134273080-134273793	A549	lung:	n/a	n/a
50	POLR2A	chr6:134273090-134274786	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:134273121-134273171	K562	blood:	n/a
2	chr6:134273121-134273171	IMR90	lung:	fetal
3	chr6:134273121-134273171	Jurkat	blood:	n/a
4	chr6:134273121-134273171	PANC-1	pancreas:	n/a
5	chr6:134273121-134273171	SAEC	small airway:	n/a
6	chr6:134273121-134273171	RPTEC	kidney:	n/a
7	chr6:134273121-134273171	Caco-2	colon:	n/a
8	chr6:134273121-134273171	HRPEpiC	eye:	n/a
9	chr6:134273121-134273171	HPAEpiC	pulmonary alveolar:	n/a
10	chr6:134273121-134273171	HCT-116	colon:	n/a
11	chr6:134273121-134273171	HAEpiC	amniotic membrane:	n/a
12	chr6:134273121-134273171	AoSMC	blood vessel:	n/a
13	chr6:134273121-134273171	AG09309	skin:	n/a
14	chr6:134273121-134273171	HRCEpiC	kidney:	n/a
15	chr6:134273121-134273171	H1-hESC	embryonic stem cell:	embryo
16	chr6:134273121-134273171	GM19239	blood:	n/a
17	chr6:134273121-134273171	HCPEpiC	choroid plexus:	n/a
18	chr6:134273121-134273171	AG04449	skin:	fetal
19	chr6:134273121-134273171	HCF	heart:	n/a
20	chr6:134273121-134273171	AG04450	lung:	fetal
21	chr6:134273121-134273171	ovcar-3	ovarian:	n/a
22	chr6:134273121-134273171	SK-N-SH	brain:	n/a
23	chr6:134273121-134273171	HEEpiC	esophagus:	n/a
24	chr6:134273121-134273171	HUVEC	blood vessel:	n/a
25	chr6:134273121-134273171	GM12891	blood:	n/a
26	chr6:134273121-134273171	Hepatocyte	liver:	n/a
27	chr6:134273121-134273171	HMEC	breast:	n/a
28	chr6:134273121-134273171	ProgFib	skin:	n/a
29	chr6:134273121-134273171	NT2-D1	testis:	n/a
30	chr6:134273121-134273171	HL-60	blood:	n/a
31	chr6:134273121-134273171	GM06990	blood:	n/a
32	chr6:134273121-134273171	SK-N-SH_RA	brain:	n/a
33	chr6:134273121-134273171	MCF-7	breast:	n/a
34	chr6:134273121-134273171	MCF10A-Er-Src	breast:	n/a
35	chr6:134273121-134273171	Hela-S3	cervix:	n/a
36	chr6:134273121-134273171	GM12892	blood:	n/a
37	chr6:134273121-134273171	HepG2	liver:	n/a
38	chr6:134273121-134273171	ECC-1	luminal epithelium:	n/a
39	chr6:134273121-134273171	U87	brain:	n/a
40	chr6:134273121-134273171	HNPCEpiC	eye:	n/a
41	chr6:134273121-134273171	T-47D	breast:	n/a
42	chr6:134273121-134273171	AG09319	gingival:	n/a
43	chr6:134273121-134273171	LNCaP	prostate:	n/a
44	chr6:134273121-134273171	PrEC	prostate:	n/a
45	chr6:134273121-134273171	HRE	kidney:	n/a
46	chr6:134273121-134273171	GM12878	blood:	n/a
47	chr6:134273121-134273171	CMK	blood:	n/a
48	chr6:134273121-134273171	HEK293	kidney:	embryo
49	chr6:134273121-134273171	A549	lung:	n/a
50	chr6:134273121-134273171	NH-A	brain:	n/a

No data

Variant related genes	Relation type
TBPL1	TF binding region
TBPL1	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10485159	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17063210	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17063219	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2268067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2268068	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3777898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3777899	1.00[JPT][hapmap]
rs3822940	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4896015	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6902440	1.00[JPT][hapmap]
rs6938805	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483631	1.00[JPT][hapmap]
rs9493768	1.00[JPT][hapmap]
rs9493782	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs956103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
2	esv1840176	chr6:134268822-134274297	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv1838635	chr6:134269008-134273139	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3387903	chr6:134272809-134276207	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134272200-134273200	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:134272400-134273200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr6:134272400-134273200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr6:134272400-134274000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:134272400-134275200	Active TSS	Fetal Brain Female	brain
6	chr6:134272400-134275200	Active TSS	Fetal Kidney	kidney
7	chr6:134272400-134275200	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:134272400-134275400	Active TSS	Aorta	Aorta
9	chr6:134272600-134273200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr6:134272600-134273200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:134272600-134273200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:134272600-134273200	Flanking Active TSS	Liver	Liver
13	chr6:134272600-134273800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr6:134272600-134274400	Active TSS	Brain Germinal Matrix	brain
15	chr6:134272600-134274800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:134272600-134275000	Active TSS	Primary T cells fromperipheralblood	blood
17	chr6:134272600-134275200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:134272600-134275200	Active TSS	Brain Angular Gyrus	brain
19	chr6:134272600-134275200	Active TSS	Colonic Mucosa	Colon
20	chr6:134272600-134275200	Active TSS	Fetal Intestine Small	intestine
21	chr6:134272600-134275200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr6:134272600-134275200	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:134272600-134275200	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr6:134272600-134275200	Active TSS	HMEC	breast
25	chr6:134272600-134275600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:134272600-134275600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr6:134272600-134275600	Active TSS	Ovary	ovary
28	chr6:134272600-134276200	Active TSS	Right Atrium	heart
29	chr6:134272800-134273200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr6:134272800-134273200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr6:134272800-134273200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr6:134272800-134273200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr6:134272800-134273400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:134272800-134273400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:134272800-134273600	Bivalent/Poised TSS	Fetal Thymus	thymus
36	chr6:134272800-134273800	Flanking Bivalent TSS/Enh	Dnd41	blood
37	chr6:134272800-134273800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:134272800-134274200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:134272800-134274400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:134272800-134274800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr6:134272800-134275000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:134272800-134275000	Active TSS	Brain Cingulate Gyrus	brain
43	chr6:134272800-134275000	Active TSS	Fetal Heart	heart
44	chr6:134272800-134275000	Active TSS	Fetal Intestine Large	intestine
45	chr6:134272800-134275000	Active TSS	Fetal Muscle Leg	muscle
46	chr6:134272800-134275000	Active TSS	Placenta	Placenta
47	chr6:134272800-134275000	Active TSS	Osteobl	bone
48	chr6:134272800-134275200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:134272800-134275200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:134272800-134275200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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