Variant report

Variant	rs200583793
Chromosome Location	chr3:133527169-133527170
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:133527026-133527170	SH-SY5Y	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133527122-133527172	HCF	heart:	n/a
2	chr3:133527122-133527172	HRPEpiC	eye:	n/a
3	chr3:133527122-133527172	Jurkat	blood:	n/a
4	chr3:133527122-133527172	GM12892	blood:	n/a
5	chr3:133527122-133527172	HRCEpiC	kidney:	n/a
6	chr3:133527122-133527172	ProgFib	skin:	n/a
7	chr3:133527122-133527172	HIPEpiC	eye:	n/a
8	chr3:133527122-133527172	SKMC	muscle:	n/a
9	chr3:133527122-133527172	GM06990	blood:	n/a
10	chr3:133527122-133527172	NH-A	brain:	n/a
11	chr3:133527122-133527172	SK-N-SH	brain:	n/a
12	chr3:133527122-133527172	AG09309	skin:	n/a
13	chr3:133527122-133527172	HCPEpiC	choroid plexus:	n/a
14	chr3:133527122-133527172	CMK	blood:	n/a
15	chr3:133527122-133527172	PrEC	prostate:	n/a
16	chr3:133527122-133527172	ovcar-3	ovarian:	n/a
17	chr3:133527122-133527172	H1-hESC	embryonic stem cell:	embryo
18	chr3:133527122-133527172	HAEpiC	amniotic membrane:	n/a
19	chr3:133527122-133527172	Hela-S3	cervix:	n/a
20	chr3:133527122-133527172	HEEpiC	esophagus:	n/a
21	chr3:133527122-133527172	NHDF-neo	bronchial:	n/a
22	chr3:133527122-133527172	AG10803	skin:	n/a
23	chr3:133527122-133527172	HL-60	blood:	n/a
24	chr3:133527122-133527172	HepG2	liver:	n/a
25	chr3:133527122-133527172	MCF10A-Er-Src	breast:	n/a
26	chr3:133527122-133527172	NT2-D1	testis:	n/a
27	chr3:133527122-133527172	AG04450	lung:	fetal
28	chr3:133527122-133527172	GM19239	blood:	n/a
29	chr3:133527122-133527172	GM12878	blood:	n/a
30	chr3:133527122-133527172	BJ	skin:	n/a
31	chr3:133527122-133527172	HNPCEpiC	eye:	n/a
32	chr3:133527122-133527172	HUVEC	blood vessel:	n/a
33	chr3:133527122-133527172	NB4	blood:	n/a
34	chr3:133527122-133527172	PANC-1	pancreas:	n/a
35	chr3:133527122-133527172	T-47D	breast:	n/a
36	chr3:133527122-133527172	SK-N-SH_RA	brain:	n/a
37	chr3:133527122-133527172	Caco-2	colon:	n/a
38	chr3:133527122-133527172	LNCaP	prostate:	n/a
39	chr3:133527122-133527172	AG04449	skin:	fetal
40	chr3:133527122-133527172	RPTEC	kidney:	n/a
41	chr3:133527122-133527172	ECC-1	luminal epithelium:	n/a
42	chr3:133527122-133527172	U87	brain:	n/a
43	chr3:133527122-133527172	A549	lung:	n/a
44	chr3:133527122-133527172	AoSMC	blood vessel:	n/a
45	chr3:133527122-133527172	NHBE	bronchial:	n/a
46	chr3:133527122-133527172	K562	blood:	n/a
47	chr3:133527122-133527172	BE2_C	brain:	n/a
48	chr3:133527122-133527172	HPAEpiC	pulmonary alveolar:	n/a
49	chr3:133527122-133527172	GM12891	blood:	n/a
50	chr3:133527122-133527172	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133378019..133382399-chr3:133522860..133528810,6	K562	blood:
2	chr3:133523551..133526872-chr3:133527016..133531055,8	MCF-7	breast:

No data

Variant related genes	Relation type
SRPRB	TF binding region
SRPRB	CpG island
ENSG00000144867	Chromatin interaction
ENSG00000242337	Chromatin interaction
ENSG00000163781	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS 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 lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv4018	chr3:133485867-133530668	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv2404664	chr3:133527169-133527170	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133525400-133527400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:133525400-133528400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:133525400-133529800	Weak transcription	Lung	lung
4	chr3:133525400-133532800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:133525400-133532800	Weak transcription	Esophagus	oesophagus
6	chr3:133525400-133533600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:133525400-133533600	Weak transcription	Spleen	Spleen
8	chr3:133525400-133539000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:133525600-133527200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:133525600-133527400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:133525600-133527400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:133525600-133527600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:133525600-133528000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:133525600-133528000	Weak transcription	Fetal Thymus	thymus
15	chr3:133525600-133528000	Weak transcription	Left Ventricle	heart
16	chr3:133525600-133528800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:133525600-133529000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:133525600-133529000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:133525600-133529800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:133525600-133529800	Weak transcription	Aorta	Aorta
21	chr3:133525600-133529800	Weak transcription	Thymus	Thymus
22	chr3:133525600-133531600	Weak transcription	Colonic Mucosa	Colon
23	chr3:133525600-133532800	Weak transcription	Ovary	ovary
24	chr3:133525600-133533600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:133525600-133533600	Weak transcription	Pancreas	Pancrea
26	chr3:133525600-133533800	Weak transcription	Fetal Kidney	kidney
27	chr3:133525600-133533800	Weak transcription	Psoas Muscle	Psoas
28	chr3:133525600-133534200	Weak transcription	Right Ventricle	heart
29	chr3:133525600-133534400	Weak transcription	Brain Substantia Nigra	brain
30	chr3:133525600-133538400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:133525600-133539000	Weak transcription	Gastric	stomach
32	chr3:133525600-133539200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:133525600-133541000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr3:133525800-133527200	Weak transcription	Fetal Intestine Large	intestine
35	chr3:133525800-133527400	Weak transcription	Fetal Intestine Small	intestine
36	chr3:133525800-133528000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:133525800-133528400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:133525800-133529000	Weak transcription	Brain Angular Gyrus	brain
39	chr3:133525800-133529200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:133525800-133529600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:133525800-133529600	Weak transcription	Fetal Brain Female	brain
42	chr3:133525800-133529800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:133525800-133531400	Weak transcription	Fetal Heart	heart
44	chr3:133525800-133531800	Weak transcription	HSMMtube	muscle
45	chr3:133525800-133533600	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:133525800-133534000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:133525800-133536400	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:133525800-133538800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:133525800-133538800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr3:133525800-133538800	Weak transcription	Stomach Mucosa	stomach

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