Variant report

Variant	rs574062976
Chromosome Location	chr11:57365060-57365061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57364956-57365062	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:57364924-57366079	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr11:57364902-57365983	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr11:57364894-57366004	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr11:57364773-57365193	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr11:57365000-57366135	H1-hESC	embryonic stem cell:	n/a	chr11:57365444-57365453 chr11:57365274-57365288 chr11:57365443-57365457 chr11:57365442-57365454 chr11:57365593-57365607 chr11:57365504-57365518 chr11:57365398-57365412 chr11:57365449-57365463 chr11:57365399-57365408 chr11:57365599-57365610 chr11:57365596-57365610 chr11:57365442-57365454 chr11:57365562-57365573
7	MAX	chr11:57365008-57366064	H1-hESC	embryonic stem cell:	n/a	chr11:57365404-57365413 chr11:57365358-57365368 chr11:57365449-57365459
8	POLR2A	chr11:57364816-57365071	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:57364902-57365914	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr11:57364886-57365345	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:57364743-57365978	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57365018-57365068	SKMC	muscle:	n/a
2	chr11:57365018-57365068	HEEpiC	esophagus:	n/a
3	chr11:57365018-57365068	NT2-D1	testis:	n/a
4	chr11:57365018-57365068	PFSK-1	brain:	n/a
5	chr11:57365018-57365068	LNCaP	prostate:	n/a
6	chr11:57365018-57365068	SK-N-MC	brain:	n/a
7	chr11:57365018-57365068	HEK293	kidney:	embryo
8	chr11:57365018-57365068	SK-N-SH	brain:	n/a
9	chr11:57365018-57365068	RPTEC	kidney:	n/a
10	chr11:57365018-57365068	Jurkat	blood:	n/a
11	chr11:57365018-57365068	HCPEpiC	choroid plexus:	n/a
12	chr11:57365018-57365068	MCF10A-Er-Src	breast:	n/a
13	chr11:57365018-57365068	HRE	kidney:	n/a
14	chr11:57365018-57365068	PANC-1	pancreas:	n/a
15	chr11:57365018-57365068	Hela-S3	cervix:	n/a
16	chr11:57365018-57365068	A549	lung:	n/a
17	chr11:57365018-57365068	ECC-1	luminal epithelium:	n/a
18	chr11:57365018-57365068	HepG2	liver:	n/a
19	chr11:57365018-57365068	ovcar-3	ovarian:	n/a
20	chr11:57365018-57365068	GM12878	blood:	n/a
21	chr11:57365018-57365068	HMEC	breast:	n/a
22	chr11:57365018-57365068	AG09319	gingival:	n/a
23	chr11:57365018-57365068	GM12892	blood:	n/a
24	chr11:57365018-57365068	IMR90	lung:	fetal
25	chr11:57365018-57365068	PrEC	prostate:	n/a
26	chr11:57365018-57365068	AG04450	lung:	fetal
27	chr11:57365018-57365068	SK-N-SH_RA	brain:	n/a
28	chr11:57365018-57365068	NB4	blood:	n/a
29	chr11:57365018-57365068	GM12891	blood:	n/a
30	chr11:57365018-57365068	HRCEpiC	kidney:	n/a
31	chr11:57365018-57365068	Hepatocyte	liver:	n/a
32	chr11:57365018-57365068	BE2_C	brain:	n/a
33	chr11:57365018-57365068	HRPEpiC	eye:	n/a
34	chr11:57365018-57365068	CMK	blood:	n/a
35	chr11:57365018-57365068	AG09309	skin:	n/a
36	chr11:57365018-57365068	HUVEC	blood vessel:	n/a
37	chr11:57365018-57365068	HNPCEpiC	eye:	n/a
38	chr11:57365018-57365068	HCF	heart:	n/a
39	chr11:57365018-57365068	HCT-116	colon:	n/a
40	chr11:57365018-57365068	T-47D	breast:	n/a
41	chr11:57365018-57365068	H1-hESC	embryonic stem cell:	embryo
42	chr11:57365018-57365068	SAEC	small airway:	n/a
43	chr11:57365018-57365068	HAEpiC	amniotic membrane:	n/a
44	chr11:57365018-57365068	HL-60	blood:	n/a
45	chr11:57365018-57365068	HCM	heart:	n/a
46	chr11:57365018-57365068	BJ	skin:	n/a
47	chr11:57365018-57365068	AG04449	skin:	fetal
48	chr11:57365018-57365068	MCF-7	breast:	n/a
49	chr11:57365018-57365068	GM06990	blood:	n/a
50	chr11:57365018-57365068	NHDF-neo	bronchial:	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
ENSG00000149150	Chromatin interaction
ENSG00000149131	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57363000-57365400	Weak transcription	Fetal Thymus	thymus
2	chr11:57364000-57365200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:57364200-57365200	Weak transcription	Lung	lung
4	chr11:57364400-57366800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:57364600-57365200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:57364600-57365200	Flanking Active TSS	Fetal Lung	lung
7	chr11:57364600-57365200	Enhancers	Placenta	Placenta
8	chr11:57364600-57365200	Flanking Active TSS	NHLF	lung
9	chr11:57364600-57365400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:57364600-57365400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:57364600-57366000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:57364600-57366000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:57364600-57366000	Active TSS	Brain Anterior Caudate	brain
14	chr11:57364600-57366000	Active TSS	Rectal Smooth Muscle	rectum
15	chr11:57364600-57366600	Active TSS	Colonic Mucosa	Colon
16	chr11:57364600-57366800	Active TSS	Aorta	Aorta
17	chr11:57364600-57366800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:57364600-57366800	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr11:57364600-57366800	Active TSS	Ovary	ovary
20	chr11:57364800-57365200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:57364800-57365200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:57364800-57365200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:57364800-57365200	Flanking Active TSS	Fetal Stomach	stomach
24	chr11:57364800-57365400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
25	chr11:57364800-57365800	Active TSS	Brain Hippocampus Middle	brain
26	chr11:57364800-57365800	Active TSS	Brain Substantia Nigra	brain
27	chr11:57364800-57365800	Enhancers	Fetal Brain Male	brain
28	chr11:57364800-57365800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr11:57364800-57366000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:57364800-57366000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr11:57364800-57366000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:57364800-57366000	Active TSS	Liver	Liver
33	chr11:57364800-57366000	Active TSS	Brain Angular Gyrus	brain
34	chr11:57364800-57366000	Active TSS	Brain Cingulate Gyrus	brain
35	chr11:57364800-57366000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:57364800-57366000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:57364800-57366200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:57364800-57366200	Active TSS	Brain Germinal Matrix	brain
39	chr11:57364800-57366200	Active TSS	Duodenum Mucosa	Duodenum
40	chr11:57364800-57366400	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr11:57364800-57366400	Active TSS	Psoas Muscle	Psoas
42	chr11:57364800-57366400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:57364800-57366600	Active TSS	Left Ventricle	heart
44	chr11:57364800-57366800	Active TSS	Right Atrium	heart
45	chr11:57364800-57366800	Active TSS	Right Ventricle	heart
46	chr11:57365000-57365200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:57365000-57365200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
48	chr11:57365000-57365200	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr11:57365000-57365200	Bivalent/Poised TSS	Thymus	Thymus
50	chr11:57365000-57365400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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