Variant report

Variant	rs182277225
Chromosome Location	chr1:103574411-103574412
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	POLR2A	chr1:103574034-103574412	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr1:103574123-103574602	H1-hESC	embryonic stem cell:	n/a	chr1:103574489-103574501 chr1:103574490-103574505 chr1:103574219-103574228 chr1:103574213-103574222
4	TBP	chr1:103573652-103574580	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr1:103573202-103575077	H1-hESC	embryonic stem cell:	n/a	chr1:103574999-103575007
6	RAD21	chr1:103573689-103574590	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr1:103574033-103574630	H1-hESC	embryonic stem cell:	n/a	chr1:103574220-103574229
8	POLR2A	chr1:103573756-103574473	ProgFib	skin:	n/a	n/a
9	MYC	chr1:103574365-103574509	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr1:103574163-103574620	H1-hESC	embryonic stem cell:	n/a	chr1:103574217-103574227
11	SP1	chr1:103573943-103574592	H1-hESC	embryonic stem cell:	n/a	chr1:103574496-103574510 chr1:103574218-103574232 chr1:103574217-103574229 chr1:103574212-103574221 chr1:103574213-103574222 chr1:103574293-103574304 chr1:103574217-103574228 chr1:103574219-103574228
12	POLR2A	chr1:103574251-103574420	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:103573632-103574467	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr1:103573492-103574610	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr1:103574066-103574648	H1-hESC	embryonic stem cell:	n/a	chr1:103574489-103574501 chr1:103574490-103574505 chr1:103574219-103574228 chr1:103574213-103574222
16	MAX	chr1:103574119-103574573	H1-hESC	embryonic stem cell:	n/a	chr1:103574217-103574227
17	BACH1	chr1:103574145-103574516	H1-hESC	embryonic stem cell:	n/a	n/a
18	EGR1	chr1:103573995-103574418	H1-hESC	embryonic stem cell:	n/a	chr1:103574214-103574227 chr1:103574214-103574227 chr1:103574214-103574227 chr1:103574218-103574228 chr1:103574215-103574224 chr1:103574214-103574227 chr1:103574213-103574228 chr1:103574209-103574231 chr1:103574214-103574224 chr1:103574213-103574227 chr1:103574215-103574226

Variant related genes	Relation type
COL11A1	TF binding region

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:80 , 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	chr1:103571400-103574600	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr1:103571400-103574800	Active TSS	Fetal Brain Female	brain
5	chr1:103571600-103574600	Active TSS	HSMMtube	muscle
6	chr1:103571800-103574600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:103571800-103574600	Active TSS	Brain Hippocampus Middle	brain
8	chr1:103571800-103574800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:103571800-103574800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:103571800-103574800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:103571800-103575000	Active TSS	Brain Anterior Caudate	brain
12	chr1:103571800-103575000	Active TSS	HSMM	muscle
13	chr1:103571800-103575200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:103571800-103575200	Active TSS	Brain Angular Gyrus	brain
15	chr1:103571800-103575200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:103571800-103575600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr1:103572000-103574600	Active TSS	Aorta	Aorta
18	chr1:103572000-103574600	Active TSS	Brain Substantia Nigra	brain
19	chr1:103572000-103574600	Active TSS	Right Atrium	heart
20	chr1:103572000-103574600	Active TSS	NHDF-Ad	bronchial
21	chr1:103572000-103574800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:103572000-103574800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:103572000-103574800	Active TSS	Fetal Heart	heart
24	chr1:103572000-103575000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:103572000-103575200	Active TSS	A549	lung
26	chr1:103572200-103574600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:103572200-103574800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:103572200-103574800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:103572200-103574800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:103572400-103574600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:103572600-103574600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:103572600-103574800	Active TSS	Rectal Smooth Muscle	rectum
33	chr1:103572600-103575000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:103572800-103574600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:103573000-103574600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:103573000-103575000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:103573400-103574600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:103573400-103574600	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr1:103573400-103574800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:103573400-103574800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:103573600-103574600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:103573600-103574600	Active TSS	Fetal Brain Male	brain
43	chr1:103573600-103574600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
44	chr1:103573600-103576200	Weak transcription	HMEC	breast
45	chr1:103573800-103574600	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr1:103573800-103574600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:103573800-103574600	Active TSS	Fetal Kidney	kidney
48	chr1:103573800-103574600	Active TSS	Fetal Lung	lung
49	chr1:103573800-103574800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr1:103573800-103574800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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