Variant report

Variant	rs56722582
Chromosome Location	chr11:64323005-64323006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64322860-64323010	BJ	skin:	n/a	n/a
2	POLR2A	chr11:64322978-64323234	HepG2	liver:	n/a	n/a
3	MAX	chr11:64322711-64323400	A549	lung:	n/a	n/a
4	FOXA2	chr11:64322902-64323143	HepG2	liver:	n/a	n/a
5	SMC3	chr11:64322864-64323035	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:64322999-64323319	HepG2	liver:	n/a	n/a
7	MYBL2	chr11:64322873-64323312	HepG2	liver:	n/a	n/a
8	ARID3A	chr11:64322882-64323208	HepG2	liver:	n/a	n/a
9	JUND	chr11:64322913-64323299	HepG2	liver:	n/a	n/a
10	HEY1	chr11:64322958-64323513	HepG2	liver:	n/a	n/a
11	CTCF	chr11:64323000-64323150	HCPEpiC	choroid plexus:	n/a	n/a
12	CEBPB	chr11:64322908-64323108	A549	lung:	n/a	n/a
13	JUN	chr11:64322547-64323823	K562	blood:	n/a	n/a
14	CEBPB	chr11:64322854-64323194	HepG2	liver:	n/a	n/a
15	CEBPB	chr11:64322947-64323104	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64322994-64323044	CMK	blood:	n/a
2	chr11:64322994-64323044	HEK293	kidney:	embryo
3	chr11:64322994-64323044	PrEC	prostate:	n/a
4	chr11:64322994-64323044	SK-N-SH_RA	brain:	n/a
5	chr11:64322994-64323044	ovcar-3	ovarian:	n/a
6	chr11:64322994-64323044	GM12892	blood:	n/a
7	chr11:64322994-64323044	HIPEpiC	eye:	n/a
8	chr11:64322994-64323044	HCM	heart:	n/a
9	chr11:64322994-64323044	U87	brain:	n/a
10	chr11:64322994-64323044	HEEpiC	esophagus:	n/a
11	chr11:64322994-64323044	K562	blood:	n/a
12	chr11:64322994-64323044	HL-60	blood:	n/a
13	chr11:64322994-64323044	A549	lung:	n/a
14	chr11:64322994-64323044	HAEpiC	amniotic membrane:	n/a
15	chr11:64322994-64323044	HRCEpiC	kidney:	n/a
16	chr11:64322994-64323044	AG04450	lung:	fetal
17	chr11:64322994-64323044	NB4	blood:	n/a
18	chr11:64322994-64323044	PFSK-1	brain:	n/a
19	chr11:64322994-64323044	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:64322994-64323044	GM06990	blood:	n/a
21	chr11:64322994-64323044	PANC-1	pancreas:	n/a
22	chr11:64322994-64323044	AG10803	skin:	n/a
23	chr11:64322994-64323044	NT2-D1	testis:	n/a
24	chr11:64322994-64323044	GM12878	blood:	n/a
25	chr11:64322994-64323044	HMEC	breast:	n/a
26	chr11:64322994-64323044	Caco-2	colon:	n/a
27	chr11:64322994-64323044	SK-N-SH	brain:	n/a
28	chr11:64322994-64323044	NHDF-neo	bronchial:	n/a
29	chr11:64322994-64323044	HNPCEpiC	eye:	n/a
30	chr11:64322994-64323044	ProgFib	skin:	n/a
31	chr11:64322994-64323044	LNCaP	prostate:	n/a
32	chr11:64322994-64323044	T-47D	breast:	n/a
33	chr11:64322994-64323044	BJ	skin:	n/a
34	chr11:64322994-64323044	HepG2	liver:	n/a
35	chr11:64322994-64323044	Hepatocyte	liver:	n/a
36	chr11:64322994-64323044	GM19239	blood:	n/a
37	chr11:64322994-64323044	GM12891	blood:	n/a
38	chr11:64322994-64323044	MCF10A-Er-Src	breast:	n/a
39	chr11:64322994-64323044	HUVEC	blood vessel:	n/a
40	chr11:64322994-64323044	RPTEC	kidney:	n/a
41	chr11:64322994-64323044	SKMC	muscle:	n/a
42	chr11:64322994-64323044	IMR90	lung:	fetal
43	chr11:64322994-64323044	BE2_C	brain:	n/a
44	chr11:64322994-64323044	Jurkat	blood:	n/a
45	chr11:64322994-64323044	ECC-1	luminal epithelium:	n/a
46	chr11:64322994-64323044	SAEC	small airway:	n/a
47	chr11:64322994-64323044	Hela-S3	cervix:	n/a
48	chr11:64322994-64323044	AG09309	skin:	n/a
49	chr11:64322994-64323044	HCF	heart:	n/a
50	chr11:64322994-64323044	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
SLC22A11	TF binding region
SLC22A11	CpG island

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs556356	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64320600-64323600	Enhancers	Fetal Lung	lung
2	chr11:64320600-64324400	Enhancers	Spleen	Spleen
3	chr11:64320800-64323400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:64320800-64323400	Enhancers	Placenta	Placenta
5	chr11:64320800-64323600	Enhancers	Fetal Stomach	stomach
6	chr11:64320800-64323600	Enhancers	Ovary	ovary
7	chr11:64320800-64324600	Enhancers	Fetal Muscle Leg	muscle
8	chr11:64320800-64324800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:64320800-64326000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:64321000-64323200	Enhancers	Fetal Muscle Trunk	muscle
11	chr11:64321200-64323200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:64321200-64323200	Enhancers	Primary B cells from cord blood	blood
13	chr11:64321200-64323200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:64321200-64323200	Enhancers	NHDF-Ad	bronchial
15	chr11:64321200-64323400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:64321200-64323400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:64321200-64323400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:64321200-64323400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:64321200-64323400	Enhancers	Adipose Nuclei	Adipose
20	chr11:64321200-64323400	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:64321200-64323400	Enhancers	Brain Substantia Nigra	brain
22	chr11:64321200-64323400	Enhancers	Colon Smooth Muscle	Colon
23	chr11:64321200-64323400	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:64321200-64323400	Enhancers	Osteobl	bone
25	chr11:64321200-64323600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:64321200-64323600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:64321200-64323600	Enhancers	Colonic Mucosa	Colon
28	chr11:64321200-64323600	Enhancers	HSMM	muscle
29	chr11:64321200-64323600	Enhancers	HSMMtube	muscle
30	chr11:64321200-64323600	Enhancers	NH-A	brain
31	chr11:64321200-64324000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:64321200-64324200	Enhancers	Fetal Thymus	thymus
33	chr11:64321200-64324400	Enhancers	Fetal Intestine Small	intestine
34	chr11:64321200-64325000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:64321200-64325200	Enhancers	Fetal Intestine Large	intestine
36	chr11:64321400-64323200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:64321400-64323400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:64321400-64323600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:64321400-64324200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:64321600-64323200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr11:64321600-64323200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:64321600-64324600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:64321600-64324800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:64321600-64325000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:64321800-64323200	Weak transcription	Right Ventricle	heart
46	chr11:64321800-64323400	Enhancers	Primary hematopoietic stem cells	blood
47	chr11:64321800-64323600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr11:64321800-64324600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:64321800-64325800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:64321800-64325800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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