Variant report

Variant	rs7482863
Chromosome Location	chr11:63382002-63382003
allele	C/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	ATF1	chr11:63381754-63382060	K562	blood:	n/a	n/a
2	YY1	chr11:63381572-63382194	A549	lung:	n/a	chr11:63382020-63382034 chr11:63381909-63381923 chr11:63381977-63381991 chr11:63381949-63381963 chr11:63381951-63381960
3	POLR2A	chr11:63381486-63382145	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:63381581-63382212	HUVEC	blood vessel:	n/a	n/a
5	SMC3	chr11:63381531-63382183	Hela-S3	cervix:	n/a	chr11:63381724-63381734
6	YY1	chr11:63381723-63382194	ECC-1	luminal epithelium:	n/a	chr11:63382020-63382034 chr11:63381909-63381923 chr11:63381977-63381991 chr11:63381949-63381963 chr11:63381951-63381960
7	POLR2A	chr11:63381632-63382293	SK-N-SH	brain:	n/a	n/a
8	SIN3AK20	chr11:63381953-63382208	A549	lung:	n/a	n/a
9	MAX	chr11:63381171-63382232	Hela-S3	cervix:	n/a	chr11:63381543-63381553
10	POLR2A	chr11:63381730-63382002	MCF-7	breast:	n/a	n/a
11	YY1	chr11:63381803-63382194	HepG2	liver:	n/a	chr11:63382020-63382034 chr11:63381909-63381923 chr11:63381977-63381991 chr11:63381949-63381963 chr11:63381951-63381960
12	POLR2A	chr11:63381651-63382181	A549	lung:	n/a	n/a
13	GABPA	chr11:63381706-63382190	H1-hESC	embryonic stem cell:	n/a	chr11:63382022-63382031
14	POLR2A	chr11:63381678-63382148	A549	lung:	n/a	n/a
15	JUND	chr11:63381768-63382125	H1-hESC	embryonic stem cell:	n/a	n/a
16	RXRA	chr11:63381738-63382213	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr11:63381574-63382120	MCF-7	breast:	n/a	n/a
18	POLR2A	chr11:63381648-63382260	HUVEC	blood vessel:	n/a	n/a
19	HCFC1	chr11:63380989-63382400	Hela-S3	cervix:	n/a	n/a
20	TBP	chr11:63381703-63382177	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr11:63381734-63382088	K562	blood:	n/a	chr11:63382020-63382034 chr11:63381909-63381923 chr11:63381977-63381991 chr11:63381949-63381963 chr11:63381951-63381960
22	POLR2A	chr11:63380882-63382282	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr11:63381322-63382275	A549	lung:	n/a	n/a
24	UBTF	chr11:63381579-63382163	K562	blood:	n/a	n/a
25	ZBTB7A	chr11:63381703-63382174	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr11:63381731-63382149	Gliobla	brain:	n/a	n/a
27	NR2F2	chr11:63381583-63382305	MCF-7	breast:	n/a	n/a
28	EP300	chr11:63381576-63382035	K562	blood:	n/a	chr11:63381714-63381730 chr11:63381954-63381963
29	MAX	chr11:63381067-63382306	HCT-116	colon:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
30	RAD21	chr11:63381831-63382204	SK-N-SH_RA	brain:	n/a	n/a
31	YY1	chr11:63381613-63382210	SK-N-SH	brain:	n/a	chr11:63382020-63382034 chr11:63381909-63381923 chr11:63381977-63381991 chr11:63381949-63381963 chr11:63381951-63381960
32	CEBPB	chr11:63381834-63382073	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:63381689-63382208	K562	blood:	n/a	n/a
34	POLR2A	chr11:63381638-63382154	K562	blood:	n/a	n/a
35	POLR2A	chr11:63381764-63382313	PANC-1	pancreas:	n/a	n/a
36	MAX	chr11:63381209-63382282	HCT-116	colon:	n/a	chr11:63381543-63381553
37	MAX	chr11:63380884-63382308	A549	lung:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
38	MYC	chr11:63381672-63382096	K562	blood:	n/a	n/a
39	HA-E2F1	chr11:63381029-63382246	Hela-S3	cervix:	n/a	chr11:63382041-63382052 chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
40	YY1	chr11:63381706-63382183	HCT-116	colon:	n/a	chr11:63382020-63382034 chr11:63381909-63381923 chr11:63381977-63381991 chr11:63381949-63381963 chr11:63381951-63381960
41	GABPA	chr11:63381855-63382150	A549	lung:	n/a	chr11:63382022-63382031
42	MXI1	chr11:63380458-63382278	SK-N-SH	brain:	n/a	n/a
43	JUN	chr11:63381617-63382204	K562	blood:	n/a	n/a
44	YY1	chr11:63381457-63382359	SK-N-SH	brain:	n/a	chr11:63382020-63382034 chr11:63381909-63381923 chr11:63381977-63381991 chr11:63381949-63381963 chr11:63381951-63381960
45	CHD2	chr11:63381649-63382118	Hela-S3	cervix:	n/a	chr11:63381807-63381817 chr11:63381947-63381957
46	ZBTB7A	chr11:63381704-63382247	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr11:63381154-63382167	GM18951	blood:	n/a	n/a
48	CREB1	chr11:63381650-63382173	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F1	chr11:63381607-63382241	Hela-S3	cervix:	n/a	chr11:63382041-63382052 chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
50	GATA3	chr11:63381564-63382036	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63374913..63376548-chr11:63380673..63383197,2	K562	blood:
2	chr11:63381325..63382017-chr2:85788347..85788975,2	Hela-S3	cervix:

Variant related genes	Relation type
PLA2G16	TF binding region
ENSG00000203520	TF binding region
ENSG00000118640	Chromatin interaction
ENSG00000176485	Chromatin interaction
ENSG00000115486	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10501394	0.82[EUR][1000 genomes]
rs11231535	0.81[EUR][1000 genomes]
rs11231543	0.82[EUR][1000 genomes]
rs12274980	0.82[EUR][1000 genomes]
rs17158453	0.82[EUR][1000 genomes]
rs17656941	0.82[EUR][1000 genomes]
rs2959876	0.82[EUR][1000 genomes]
rs35345497	0.82[EUR][1000 genomes]
rs476691	0.82[EUR][1000 genomes]
rs518490	0.82[EUR][1000 genomes]
rs550629	0.82[EUR][1000 genomes]
rs551466	0.82[EUR][1000 genomes]
rs562549	0.82[EUR][1000 genomes]
rs61928162	0.82[EUR][1000 genomes]
rs61928163	0.82[EUR][1000 genomes]
rs61928165	0.82[EUR][1000 genomes]
rs61928166	0.82[EUR][1000 genomes]
rs61928167	0.82[EUR][1000 genomes]
rs61928168	0.82[EUR][1000 genomes]
rs61928195	0.82[EUR][1000 genomes]
rs61928196	0.82[EUR][1000 genomes]
rs61929725	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929728	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929731	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931908	0.82[EUR][1000 genomes]
rs7949447	0.82[EUR][1000 genomes]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	esv32927	chr11:63377277-63387923	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3359778	chr11:63381726-63384024	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63378400-63382400	Active TSS	Brain Angular Gyrus	brain
2	chr11:63378400-63382400	Active TSS	Ovary	ovary
3	chr11:63379000-63382400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:63379000-63382400	Active TSS	Brain Substantia Nigra	brain
5	chr11:63379400-63382200	Active TSS	Brain Cingulate Gyrus	brain
6	chr11:63379400-63382400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:63380000-63382200	Active TSS	Brain Anterior Caudate	brain
8	chr11:63380000-63382400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:63380200-63382200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:63380200-63382200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:63380200-63382400	Active TSS	Brain Hippocampus Middle	brain
12	chr11:63380200-63382400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:63380400-63382200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:63380400-63382400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:63380400-63382400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:63380400-63382400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:63380400-63382400	Active TSS	Aorta	Aorta
18	chr11:63380400-63382400	Active TSS	Duodenum Mucosa	Duodenum
19	chr11:63380400-63382400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr11:63380400-63382400	Active TSS	Left Ventricle	heart
21	chr11:63380400-63382400	Active TSS	Right Atrium	heart
22	chr11:63380400-63382400	Active TSS	HSMM	muscle
23	chr11:63380400-63382400	Active TSS	HSMMtube	muscle
24	chr11:63380400-63382400	Active TSS	NHLF	lung
25	chr11:63380600-63382200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:63380600-63382200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:63380600-63382200	Active TSS	Adipose Nuclei	Adipose
28	chr11:63380600-63382200	Active TSS	Lung	lung
29	chr11:63380600-63382200	Active TSS	Rectal Smooth Muscle	rectum
30	chr11:63380600-63382400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:63380600-63382400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:63380600-63382400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr11:63380600-63382400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:63380600-63382400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:63380600-63382400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:63380600-63382400	Active TSS	Colon Smooth Muscle	Colon
37	chr11:63380600-63382400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr11:63380600-63382400	Active TSS	Pancreas	Pancrea
39	chr11:63380600-63382400	Active TSS	Psoas Muscle	Psoas
40	chr11:63380600-63382400	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:63380600-63382400	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr11:63380600-63382400	Active TSS	Stomach Smooth Muscle	stomach
43	chr11:63380600-63382400	Active TSS	A549	lung
44	chr11:63380600-63382400	Active TSS	Osteobl	bone
45	chr11:63380800-63382200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:63380800-63382200	Active TSS	Fetal Kidney	kidney
47	chr11:63381000-63382200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:63381000-63382200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:63381000-63382200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
50	chr11:63381000-63382200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

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