Variant report

Variant	rs3777898
Chromosome Location	chr6:134304700-134304701
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	CTCF	chr6:134304680-134304830	AG09319	gingival:	n/a	n/a
2	MAFK	chr6:134304543-134305019	K562	blood:	n/a	chr6:134304635-134304644
3	CEBPB	chr6:134304535-134304982	MCF-7	breast:	n/a	n/a
4	CTCF	chr6:134304680-134304830	GM12871	blood:	n/a	n/a
5	HDAC2	chr6:134304556-134304925	K562	blood:	n/a	n/a
6	POLR2A	chr6:134304652-134304835	MCF-7	breast:	n/a	n/a
7	REST	chr6:134304511-134304977	HL-60	blood:	n/a	n/a
8	ZMIZ1	chr6:134304678-134304958	K562	blood:	n/a	n/a
9	CTCF	chr6:134304680-134304830	HCM	heart:	n/a	n/a
10	STAT3	chr6:134304642-134305088	MCF10A-Er-Src	breast:	n/a	chr6:134304777-134304785
11	POLR2A	chr6:134304699-134304798	ProgFib	skin:	n/a	n/a
12	CTCF	chr6:134304691-134304804	K562	blood:	n/a	n/a
13	CTCF	chr6:134304700-134304850	MCF-7	breast:	n/a	n/a
14	ATF1	chr6:134304691-134304987	K562	blood:	n/a	n/a
15	RUNX3	chr6:134304611-134304934	GM12878	blood:	n/a	chr6:134304839-134304848 chr6:134304839-134304848 chr6:134304769-134304778 chr6:134304769-134304778
16	CTCF	chr6:134304629-134304848	Gliobla	brain:	n/a	n/a
17	CTCF	chr6:134304614-134304877	MCF-7	breast:	n/a	n/a
18	CEBPB	chr6:134304564-134304997	A549	lung:	n/a	n/a
19	POLR2A	chr6:134304530-134305046	SK-N-MC	brain:	n/a	n/a
20	CTCF	chr6:134304680-134304830	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:134304592-134304839	HCT-116	colon:	n/a	n/a
22	CTCF	chr6:134304627-134304858	MCF-7	breast:	n/a	n/a
23	MYC	chr6:134304583-134304958	NB4	blood:	n/a	chr6:134304637-134304646
24	CTCF	chr6:134304620-134304770	HBMEC	blood vessel:	n/a	n/a
25	RAD21	chr6:134304506-134304877	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:134304691-134304765	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr6:134304638-134304966	K562	blood:	n/a	n/a
28	CTCF	chr6:134304629-134304846	HepG2	liver:	n/a	n/a
29	CTCF	chr6:134304600-134304750	AG04449	skin:	n/a	n/a
30	CEBPB	chr6:134304485-134305073	K562	blood:	n/a	n/a
31	CEBPD	chr6:134304534-134305031	K562	blood:	n/a	n/a
32	CTCF	chr6:134304584-134304885	K562	blood:	n/a	n/a
33	TEAD4	chr6:134304564-134305039	K562	blood:	n/a	n/a
34	CTCF	chr6:134304580-134304850	NB4	blood:	n/a	n/a
35	CEBPB	chr6:134304461-134304983	HCT-116	colon:	n/a	n/a
36	CEBPB	chr6:134304634-134304850	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr6:134304640-134304790	HCPEpiC	choroid plexus:	n/a	n/a
38	POLR2A	chr6:134304625-134304818	Gliobla	brain:	n/a	n/a
39	POLR2A	chr6:134304261-134305236	K562	blood:	n/a	n/a
40	CTCF	chr6:134304680-134304830	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr6:134304690-134304803	A549	lung:	n/a	n/a
42	CTCF	chr6:134304680-134304830	GM12873	blood:	n/a	n/a
43	POLR2A	chr6:134304236-134305145	K562	blood:	n/a	n/a
44	CTCF	chr6:134304623-134304851	MCF-7	breast:	n/a	n/a
45	TBL1XR1	chr6:134304636-134304937	K562	blood:	n/a	n/a
46	TBL1XR1	chr6:134304651-134304788	K562	blood:	n/a	n/a
47	HDAC2	chr6:134304497-134304901	K562	blood:	n/a	n/a
48	JUND	chr6:134304457-134304949	K562	blood:	n/a	chr6:134304638-134304649 chr6:134304636-134304646 chr6:134304637-134304644 chr6:134304637-134304645 chr6:134304637-134304645 chr6:134304636-134304646 chr6:134304636-134304646 chr6:134304636-134304646
49	CEBPB	chr6:134304565-134304987	K562	blood:	n/a	n/a
50	CTCF	chr6:134304679-134304846	Spleen_OC	spleen:	n/a	n/a

Variant related genes	Relation type
TBPL1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10485159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17063199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17063210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17063219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2268067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2268069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2268071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3756876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3777897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4896016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4896018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6938805	1.00[EUR][1000 genomes]
rs9493782	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
2	chr6:134280600-134312200	Weak transcription	Lung	lung
3	chr6:134283200-134305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:134285000-134316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:134288200-134311800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:134288400-134306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:134290800-134316400	Weak transcription	Esophagus	oesophagus
8	chr6:134295000-134313800	Weak transcription	Spleen	Spleen
9	chr6:134295200-134311800	Weak transcription	Brain Germinal Matrix	brain
10	chr6:134297000-134318000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:134297600-134304800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:134299400-134307200	Weak transcription	Left Ventricle	heart
13	chr6:134299400-134311800	Weak transcription	Gastric	stomach
14	chr6:134299400-134312000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:134299400-134313200	Weak transcription	Psoas Muscle	Psoas
16	chr6:134299400-134313400	Weak transcription	Aorta	Aorta
17	chr6:134299400-134313800	Weak transcription	Right Ventricle	heart
18	chr6:134299600-134310200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:134299800-134305800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:134299800-134307000	Weak transcription	Ovary	ovary
21	chr6:134299800-134312000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:134299800-134313600	Weak transcription	Fetal Heart	heart
23	chr6:134299800-134314000	Weak transcription	Fetal Brain Male	brain
24	chr6:134300400-134312200	Weak transcription	Small Intestine	intestine
25	chr6:134300400-134315400	Weak transcription	Fetal Intestine Small	intestine
26	chr6:134300600-134305000	Strong transcription	Primary B cells from cord blood	blood
27	chr6:134300600-134305800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:134300600-134306800	Weak transcription	Stomach Mucosa	stomach
29	chr6:134300600-134312000	Weak transcription	NHLF	lung
30	chr6:134301000-134312400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:134302000-134308400	Strong transcription	Placenta	Placenta
32	chr6:134302400-134307600	Strong transcription	GM12878-XiMat	blood
33	chr6:134302400-134308200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:134302600-134307800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr6:134302600-134308800	Strong transcription	Liver	Liver
36	chr6:134302600-134309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:134302800-134305400	Strong transcription	Fetal Kidney	kidney
38	chr6:134302800-134307400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr6:134302800-134308400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:134302800-134308400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:134302800-134308400	Strong transcription	Fetal Lung	lung
42	chr6:134302800-134324000	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:134303000-134304800	Strong transcription	Brain Hippocampus Middle	brain
44	chr6:134303000-134304800	Strong transcription	HSMMtube	muscle
45	chr6:134303000-134304800	Strong transcription	NHEK	skin
46	chr6:134303000-134305000	Strong transcription	Brain Angular Gyrus	brain
47	chr6:134303000-134305400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:134303000-134306000	Strong transcription	Brain Anterior Caudate	brain
49	chr6:134303000-134306200	Strong transcription	Fetal Intestine Large	intestine
50	chr6:134303000-134306200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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