Variant report

Variant	rs536541489
Chromosome Location	chr11:57364894-57364895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr11:57364894-57366004	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr11:57364773-57365193	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:57364816-57365071	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr11:57364886-57365345	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:57364743-57365978	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57364890-57364940	LNCaP	prostate:	n/a
2	chr11:57364890-57364940	AG09309	skin:	n/a
3	chr11:57364890-57364940	HUVEC	blood vessel:	n/a
4	chr11:57364888-57364938	MCF-7	breast:	n/a
5	chr11:57364888-57364938	ovcar-3	ovarian:	n/a
6	chr11:57364888-57364938	AG09319	gingival:	n/a
7	chr11:57364888-57364938	Jurkat	blood:	n/a
8	chr11:57364888-57364938	HRCEpiC	kidney:	n/a
9	chr11:57364888-57364938	SK-N-SH	brain:	n/a
10	chr11:57364890-57364940	ProgFib	skin:	n/a
11	chr11:57364888-57364938	AG10803	skin:	n/a
12	chr11:57364890-57364940	NHBE	bronchial:	n/a
13	chr11:57364890-57364940	A549	lung:	n/a
14	chr11:57364888-57364938	HEEpiC	esophagus:	n/a
15	chr11:57364888-57364938	AoSMC	blood vessel:	n/a
16	chr11:57364888-57364938	GM06990	blood:	n/a
17	chr11:57364890-57364940	Hela-S3	cervix:	n/a
18	chr11:57364890-57364940	PrEC	prostate:	n/a
19	chr11:57364890-57364940	AG04450	lung:	fetal
20	chr11:57364890-57364940	BJ	skin:	n/a
21	chr11:57364890-57364940	SK-N-SH_RA	brain:	n/a
22	chr11:57364888-57364938	IMR90	lung:	fetal
23	chr11:57364890-57364940	MCF10A-Er-Src	breast:	n/a
24	chr11:57364890-57364940	MCF-7	breast:	n/a
25	chr11:57364890-57364940	BE2_C	brain:	n/a
26	chr11:57364890-57364940	SAEC	small airway:	n/a
27	chr11:57364888-57364938	HAEpiC	amniotic membrane:	n/a
28	chr11:57364888-57364938	HCPEpiC	choroid plexus:	n/a
29	chr11:57364888-57364938	NH-A	brain:	n/a
30	chr11:57364890-57364940	HCM	heart:	n/a
31	chr11:57364888-57364938	HIPEpiC	eye:	n/a
32	chr11:57364888-57364938	SK-N-SH_RA	brain:	n/a
33	chr11:57364890-57364940	SK-N-MC	brain:	n/a
34	chr11:57364890-57364940	K562	blood:	n/a
35	chr11:57364888-57364938	SKMC	muscle:	n/a
36	chr11:57364890-57364940	HRCEpiC	kidney:	n/a
37	chr11:57364888-57364938	Caco-2	colon:	n/a
38	chr11:57364890-57364940	HEK293	kidney:	embryo
39	chr11:57364888-57364938	SK-N-MC	brain:	n/a
40	chr11:57364890-57364940	AG10803	skin:	n/a
41	chr11:57364888-57364938	GM19239	blood:	n/a
42	chr11:57364888-57364938	AG04449	skin:	fetal
43	chr11:57364890-57364940	HAEpiC	amniotic membrane:	n/a
44	chr11:57364890-57364940	AoSMC	blood vessel:	n/a
45	chr11:57364888-57364938	U87	brain:	n/a
46	chr11:57364888-57364938	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:57364890-57364940	NB4	blood:	n/a
48	chr11:57364890-57364940	ovcar-3	ovarian:	n/a
49	chr11:57364888-57364938	T-47D	breast:	n/a
50	chr11:57364890-57364940	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57363269..57366608-chr11:57366625..57370345,5	K562	blood:
2	chr11:57280138..57282809-chr11:57363760..57366213,2	MCF-7	breast:

No data

Variant related genes	Relation type
SERPING1	TF binding region
SERPING1	CpG island
ENSG00000149131	Chromatin interaction
ENSG00000149150	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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 miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv897588	chr11:57364381-57373478	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57358600-57365000	Weak transcription	Pancreas	Pancrea
2	chr11:57363000-57365400	Weak transcription	Fetal Thymus	thymus
3	chr11:57363200-57365000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:57364000-57365200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:57364200-57365200	Weak transcription	Lung	lung
6	chr11:57364400-57366800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:57364600-57365000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:57364600-57365000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:57364600-57365000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57364600-57365000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:57364600-57365000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:57364600-57365000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:57364600-57365000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:57364600-57365000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:57364600-57365000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr11:57364600-57365000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:57364600-57365000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:57364600-57365000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:57364600-57365000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:57364600-57365000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:57364600-57365000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:57364600-57365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:57364600-57365000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr11:57364600-57365000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr11:57364600-57365000	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr11:57364600-57365000	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr11:57364600-57365000	Flanking Active TSS	Fetal Kidney	kidney
28	chr11:57364600-57365000	Flanking Active TSS	HepG2	liver
29	chr11:57364600-57365000	Flanking Active TSS	Osteobl	bone
30	chr11:57364600-57365200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:57364600-57365200	Flanking Active TSS	Fetal Lung	lung
32	chr11:57364600-57365200	Enhancers	Placenta	Placenta
33	chr11:57364600-57365200	Flanking Active TSS	NHLF	lung
34	chr11:57364600-57365400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:57364600-57365400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:57364600-57366000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:57364600-57366000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr11:57364600-57366000	Active TSS	Brain Anterior Caudate	brain
39	chr11:57364600-57366000	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:57364600-57366600	Active TSS	Colonic Mucosa	Colon
41	chr11:57364600-57366800	Active TSS	Aorta	Aorta
42	chr11:57364600-57366800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:57364600-57366800	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr11:57364600-57366800	Active TSS	Ovary	ovary
45	chr11:57364800-57365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:57364800-57365000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:57364800-57365000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:57364800-57365000	Enhancers	Fetal Brain Female	brain
49	chr11:57364800-57365000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:57364800-57365000	Active TSS	Stomach Smooth Muscle	stomach

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