Variant report

Variant	rs1107413
Chromosome Location	chr3:133524717-133524718
allele	C/G
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	YY1	chr3:133524405-133525168	GM12891	blood:	n/a	n/a
2	POLR2A	chr3:133524431-133525304	GM12878	blood:	n/a	n/a
3	MYC	chr3:133524358-133525316	K562	blood:	n/a	chr3:133524452-133524461
4	RAD21	chr3:133524490-133525205	IMR90	lung:	n/a	chr3:133525006-133525020
5	ZNF143	chr3:133524306-133525134	H1-hESC	embryonic stem cell:	n/a	chr3:133524539-133524557 chr3:133524539-133524548 chr3:133524546-133524561 chr3:133524541-133524550
6	YY1	chr3:133524364-133524949	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:133524473-133525335	Hela-S3	cervix:	n/a	n/a
8	MAX	chr3:133524165-133525415	HCT-116	colon:	n/a	chr3:133524452-133524461
9	POLR2A	chr3:133524359-133525249	ProgFib	skin:	n/a	n/a
10	TCF3	chr3:133524584-133524964	GM12878	blood:	n/a	n/a
11	CTCF	chr3:133524376-133524833	K562	blood:	n/a	n/a
12	ELF1	chr3:133524407-133524834	K562	blood:	n/a	n/a
13	ZNF143	chr3:133524240-133525278	Hela-S3	cervix:	n/a	chr3:133524539-133524557 chr3:133524539-133524548 chr3:133525193-133525203 chr3:133524546-133524561 chr3:133524541-133524550
14	POLR2A	chr3:133524398-133525346	GM12892	blood:	n/a	n/a
15	ELF1	chr3:133524316-133525382	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:133524453-133524836	HepG2	liver:	n/a	n/a
17	ELF1	chr3:133524360-133525414	MCF-7	breast:	n/a	n/a
18	TAF1	chr3:133524551-133524777	GM12892	blood:	n/a	n/a
19	POU2F2	chr3:133524598-133524820	GM12878	blood:	n/a	n/a
20	CHD2	chr3:133524328-133525262	H1-hESC	embryonic stem cell:	n/a	chr3:133524625-133524635 chr3:133524878-133524888
21	POLR2A	chr3:133524404-133525305	GM18526	blood:	n/a	n/a
22	GTF2B	chr3:133524499-133524751	K562	blood:	n/a	n/a
23	CHD2	chr3:133524349-133524815	HepG2	liver:	n/a	chr3:133524625-133524635
24	CREB1	chr3:133524336-133525316	K562	blood:	n/a	n/a
25	REST	chr3:133524496-133524853	HepG2	liver:	n/a	n/a
26	FOXP2	chr3:133524442-133524880	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr3:133524449-133525506	GM19099	blood:	n/a	n/a
28	POLR2A	chr3:133524418-133525284	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr3:133524454-133525335	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:133524543-133524844	A549	lung:	n/a	n/a
31	TAF1	chr3:133524489-133525014	A549	lung:	n/a	n/a
32	CEBPB	chr3:133524264-133525561	Hela-S3	cervix:	n/a	n/a
33	TBP	chr3:133524417-133525202	K562	blood:	n/a	n/a
34	POLR2A	chr3:133524465-133525274	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr3:133524444-133525353	GM18505	blood:	n/a	n/a
36	ELK1	chr3:133524464-133525170	Hela-S3	cervix:	n/a	n/a
37	JUND	chr3:133524512-133524922	A549	lung:	n/a	chr3:133524887-133524901
38	POLR2A	chr3:133524482-133525257	GM12878	blood:	n/a	n/a
39	CREB1	chr3:133524446-133525096	A549	lung:	n/a	n/a
40	MAZ	chr3:133524453-133524769	HepG2	liver:	n/a	n/a
41	MAFK	chr3:133524404-133524845	K562	blood:	n/a	n/a
42	CTCF	chr3:133524620-133524770	HepG2	liver:	n/a	n/a
43	CTCF	chr3:133524620-133524770	AG04449	skin:	n/a	n/a
44	SIN3AK20	chr3:133524461-133525360	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr3:133524474-133525280	GM10847	blood:	n/a	n/a
46	TAF1	chr3:133524505-133525278	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F4	chr3:133524356-133525267	MCF10A-Er-Src	breast:	n/a	chr3:133524631-133524640
48	TAF1	chr3:133524485-133524919	HepG2	liver:	n/a	n/a
49	ZEB1	chr3:133524406-133524915	GM12878	blood:	n/a	n/a
50	MAFK	chr3:133524268-133524891	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:133380350..133382601-chr3:133523415..133526726,4	K562	blood:
2	chr3:133522634..133526763-chr3:133529104..133532905,8	K562	blood:
3	chr3:133523328..133525267-chr3:133529249..133532239,3	MCF-7	breast:
4	chr3:133523642..133526680-chr3:133527233..133530883,4	K562	blood:
5	chr3:133379614..133382648-chr3:133523517..133526970,4	MCF-7	breast:
6	chr3:133378019..133382399-chr3:133522860..133528810,6	K562	blood:
7	chr3:133523551..133526872-chr3:133527016..133531055,8	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1049296	0.92[JPT][hapmap]
rs13321680	0.91[ASN][1000 genomes]
rs13324779	0.90[ASN][1000 genomes]
rs1464937	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs1534166	0.82[JPT][hapmap]
rs3817524	1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs56090943	0.86[ASN][1000 genomes]
rs56245543	0.82[ASN][1000 genomes]
rs7355929	0.91[ASN][1000 genomes]
rs8177213	0.84[JPT][hapmap]
rs9810872	0.98[ASN][1000 genomes]
rs9830001	0.84[JPT][hapmap]
rs9853615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9876158	0.91[ASN][1000 genomes]
rs9881405	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133523800-133525200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr3:133523800-133525200	Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr3:133523800-133525600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:133523800-133526000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:133523800-133526800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr3:133524000-133525200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:133524000-133525200	Active TSS	Brain Substantia Nigra	brain
8	chr3:133524000-133525400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr3:133524000-133525400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:133524000-133525400	Active TSS	Brain Cingulate Gyrus	brain
11	chr3:133524000-133525400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr3:133524000-133525400	Active TSS	Rectal Smooth Muscle	rectum
13	chr3:133524000-133525400	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr3:133524000-133525400	Active TSS	Hela-S3	cervix
15	chr3:133524000-133525600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:133524000-133525600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr3:133524000-133525800	Active TSS	Colon Smooth Muscle	Colon
18	chr3:133524000-133525800	Active TSS	A549	lung
19	chr3:133524200-133525000	Active TSS	Placenta Amnion	Placenta Amnion
20	chr3:133524200-133525200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:133524200-133525200	Active TSS	Primary T cells from cord blood	blood
22	chr3:133524200-133525200	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr3:133524200-133525200	Active TSS	Spleen	Spleen
24	chr3:133524200-133525400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:133524200-133525400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:133524200-133525400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:133524200-133525400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:133524200-133525400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:133524200-133525400	Active TSS	Esophagus	oesophagus
30	chr3:133524200-133525400	Active TSS	Fetal Brain Male	brain
31	chr3:133524200-133525600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr3:133524200-133525600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:133524200-133525600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:133524200-133525600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:133524200-133525600	Active TSS	Aorta	Aorta
36	chr3:133524200-133525600	Active TSS	Brain Hippocampus Middle	brain
37	chr3:133524200-133525600	Active TSS	Colonic Mucosa	Colon
38	chr3:133524200-133525600	Active TSS	Fetal Brain Female	brain
39	chr3:133524200-133525600	Active TSS	Fetal Muscle Trunk	muscle
40	chr3:133524200-133525600	Active TSS	Gastric	stomach
41	chr3:133524200-133525600	Active TSS	Left Ventricle	heart
42	chr3:133524200-133525600	Active TSS	Psoas Muscle	Psoas
43	chr3:133524200-133525600	Active TSS	Right Ventricle	heart
44	chr3:133524200-133525600	Active TSS	Stomach Smooth Muscle	stomach
45	chr3:133524200-133525600	Active TSS	HSMM	muscle
46	chr3:133524200-133525800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr3:133524200-133525800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr3:133524200-133525800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:133524200-133525800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:133524200-133525800	Active TSS	Fetal Stomach	stomach

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