Variant report

Variant	rs200407237
Chromosome Location	chr1:103574652-103574653
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:103573767-103574669	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr1:103573202-103575077	H1-hESC	embryonic stem cell:	n/a	chr1:103574999-103575007
3	POLR2A	chr1:103574486-103574655	ProgFib	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:103574619-103574669	RPTEC	kidney:	n/a
2	chr1:103574619-103574669	NH-A	brain:	n/a
3	chr1:103574619-103574669	Caco-2	colon:	n/a
4	chr1:103574619-103574669	PrEC	prostate:	n/a
5	chr1:103574619-103574669	A549	lung:	n/a
6	chr1:103574619-103574669	HUVEC	blood vessel:	n/a
7	chr1:103574619-103574669	PANC-1	pancreas:	n/a
8	chr1:103574619-103574669	NHDF-neo	bronchial:	n/a
9	chr1:103574619-103574669	HepG2	liver:	n/a
10	chr1:103574619-103574669	ovcar-3	ovarian:	n/a
11	chr1:103574619-103574669	HRPEpiC	eye:	n/a
12	chr1:103574619-103574669	ECC-1	luminal epithelium:	n/a
13	chr1:103574619-103574669	H1-hESC	embryonic stem cell:	embryo
14	chr1:103574619-103574669	NB4	blood:	n/a
15	chr1:103574619-103574669	GM12891	blood:	n/a
16	chr1:103574619-103574669	Hela-S3	cervix:	n/a
17	chr1:103574619-103574669	IMR90	lung:	fetal
18	chr1:103574619-103574669	AG09309	skin:	n/a
19	chr1:103574619-103574669	HEK293	kidney:	embryo
20	chr1:103574619-103574669	Hepatocyte	liver:	n/a
21	chr1:103574619-103574669	ProgFib	skin:	n/a
22	chr1:103574619-103574669	SKMC	muscle:	n/a
23	chr1:103574619-103574669	SK-N-SH_RA	brain:	n/a
24	chr1:103574619-103574669	PFSK-1	brain:	n/a
25	chr1:103574619-103574669	HIPEpiC	eye:	n/a
26	chr1:103574619-103574669	GM19239	blood:	n/a
27	chr1:103574619-103574669	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:103574619-103574669	GM06990	blood:	n/a
29	chr1:103574619-103574669	HNPCEpiC	eye:	n/a
30	chr1:103574619-103574669	AG10803	skin:	n/a
31	chr1:103574619-103574669	HRE	kidney:	n/a
32	chr1:103574619-103574669	BJ	skin:	n/a
33	chr1:103574619-103574669	CMK	blood:	n/a
34	chr1:103574619-103574669	AG04450	lung:	fetal
35	chr1:103574619-103574669	AoSMC	blood vessel:	n/a
36	chr1:103574619-103574669	K562	blood:	n/a
37	chr1:103574619-103574669	SAEC	small airway:	n/a
38	chr1:103574619-103574669	U87	brain:	n/a
39	chr1:103574619-103574669	MCF10A-Er-Src	breast:	n/a
40	chr1:103574619-103574669	HL-60	blood:	n/a
41	chr1:103574619-103574669	AG04449	skin:	fetal
42	chr1:103574619-103574669	HMEC	breast:	n/a
43	chr1:103574619-103574669	BE2_C	brain:	n/a
44	chr1:103574619-103574669	Jurkat	blood:	n/a
45	chr1:103574619-103574669	HAEpiC	amniotic membrane:	n/a
46	chr1:103574619-103574669	GM12878	blood:	n/a
47	chr1:103574619-103574669	T-47D	breast:	n/a
48	chr1:103574619-103574669	NT2-D1	testis:	n/a
49	chr1:103574619-103574669	MCF-7	breast:	n/a
50	chr1:103574619-103574669	HCF	heart:	n/a

No data

Variant related genes	Relation type
COL11A1	TF binding region
COL11A1	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103567400-103575000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:103570400-103575200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:103571400-103574800	Active TSS	Fetal Brain Female	brain
4	chr1:103571800-103574800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:103571800-103574800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:103571800-103574800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:103571800-103575000	Active TSS	Brain Anterior Caudate	brain
8	chr1:103571800-103575000	Active TSS	HSMM	muscle
9	chr1:103571800-103575200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:103571800-103575200	Active TSS	Brain Angular Gyrus	brain
11	chr1:103571800-103575200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:103571800-103575600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:103572000-103574800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr1:103572000-103574800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:103572000-103574800	Active TSS	Fetal Heart	heart
16	chr1:103572000-103575000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:103572000-103575200	Active TSS	A549	lung
18	chr1:103572200-103574800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:103572200-103574800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:103572200-103574800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:103572600-103574800	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:103572600-103575000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:103573000-103575000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:103573400-103574800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:103573400-103574800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr1:103573600-103576200	Weak transcription	HMEC	breast
27	chr1:103573800-103574800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr1:103573800-103574800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:103573800-103574800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:103573800-103574800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:103573800-103574800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:103573800-103575000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:103574000-103574800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:103574000-103574800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:103574000-103574800	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr1:103574000-103575000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr1:103574200-103574800	Active TSS	Brain Cingulate Gyrus	brain
38	chr1:103574200-103574800	Active TSS	Osteobl	bone
39	chr1:103574200-103575400	Active TSS	Brain Germinal Matrix	brain
40	chr1:103574400-103574800	Active TSS	Fetal Muscle Leg	muscle
41	chr1:103574400-103574800	Flanking Active TSS	NH-A	brain
42	chr1:103574600-103574800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:103574600-103574800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr1:103574600-103574800	Flanking Active TSS	Fetal Kidney	kidney
45	chr1:103574600-103574800	Active TSS	Fetal Muscle Trunk	muscle
46	chr1:103574600-103574800	Active TSS	Stomach Smooth Muscle	stomach
47	chr1:103574600-103575200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:103574600-103575400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:103574600-103575400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr1:103574600-103575400	Enhancers	Brain Substantia Nigra	brain

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