Variant report

Variant	rs74121613
Chromosome Location	chr1:169279081-169279082
allele	A/C
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	SPI1	chr1:169278857-169279114	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:169278274-169279095	K562	blood:	n/a	n/a
3	EP300	chr1:169278281-169279263	K562	blood:	n/a	n/a
4	ARID3A	chr1:169278254-169279195	K562	blood:	n/a	n/a
5	JUN	chr1:169278199-169279151	K562	blood:	n/a	n/a
6	POLR2A	chr1:169278384-169279121	K562	blood:	n/a	n/a
7	IRF1	chr1:169277905-169279428	K562	blood:	n/a	chr1:169278953-169278974 chr1:169279063-169279076
8	CEBPB	chr1:169278235-169279153	K562	blood:	n/a	n/a
9	IRF1	chr1:169278435-169279165	K562	blood:	n/a	chr1:169278953-169278974 chr1:169279063-169279076
10	TRIM28	chr1:169278231-169279188	K562	blood:	n/a	n/a
11	JUND	chr1:169278359-169279173	K562	blood:	n/a	n/a
12	RCOR1	chr1:169278361-169279099	K562	blood:	n/a	n/a
13	CBX3	chr1:169278281-169279082	K562	blood:	n/a	n/a
14	MYC	chr1:169279020-169279209	K562	blood:	n/a	n/a
15	TEAD4	chr1:169278224-169279130	K562	blood:	n/a	n/a
16	IRF1	chr1:169278270-169279192	K562	blood:	n/a	chr1:169278953-169278974 chr1:169279063-169279076
17	CUX1	chr1:169278383-169279310	K562	blood:	n/a	n/a
18	POLR2A	chr1:169278322-169279247	PBDE	blood:	n/a	n/a
19	MAZ	chr1:169278352-169279132	K562	blood:	n/a	n/a
20	CCNT2	chr1:169278275-169279107	K562	blood:	n/a	n/a
21	KAP1	chr1:169277489-169279375	K562	blood:	n/a	n/a
22	GATA1	chr1:169278171-169279139	PBDE	blood:	n/a	chr1:169278242-169278252

No.	Distal block	Cell Line	Cell type
1	chr1:169073990..169076920-chr1:169277266..169279793,2	K562	blood:
2	chr1:169074524..169076141-chr1:169277418..169279105,2	MCF-7	breast:
3	chr1:169266400..169268623-chr1:169277324..169279302,2	K562	blood:

Variant related genes	Relation type
ENSG00000235575	TF binding region
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1200073	0.89[AFR][1000 genomes]
rs1200075	0.83[AFR][1000 genomes]
rs1200086	0.89[AFR][1000 genomes]
rs1208369	0.83[AFR][1000 genomes]
rs57214726	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57722630	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57802772	0.93[AFR][1000 genomes]
rs60917555	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61239182	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74121604	0.84[AFR][1000 genomes]
rs74121605	0.84[AFR][1000 genomes]
rs74121612	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74121614	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74121621	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74121678	1.00[EUR][1000 genomes]
rs74121680	1.00[EUR][1000 genomes]
rs74125218	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169253600-169280600	Weak transcription	Fetal Kidney	kidney
2	chr1:169254800-169281000	Weak transcription	Dnd41	blood
3	chr1:169257600-169284800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:169257800-169281200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:169259600-169294400	Weak transcription	Pancreas	Pancrea
6	chr1:169260400-169310400	Weak transcription	Fetal Stomach	stomach
7	chr1:169264000-169281400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:169264400-169294400	Weak transcription	Left Ventricle	heart
9	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
10	chr1:169265200-169281200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:169265400-169281200	Weak transcription	NHDF-Ad	bronchial
12	chr1:169265800-169281000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:169266200-169280200	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:169267000-169281200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:169267800-169281200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:169269000-169281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:169269200-169281400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:169269400-169281600	Weak transcription	HUVEC	blood vessel
19	chr1:169269600-169281000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:169271800-169297200	Weak transcription	Psoas Muscle	Psoas
22	chr1:169273600-169281000	Weak transcription	A549	lung
23	chr1:169273600-169312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:169273800-169279800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:169275000-169279600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:169275200-169281400	Weak transcription	Fetal Thymus	thymus
27	chr1:169275600-169280400	Weak transcription	Fetal Lung	lung
28	chr1:169275600-169281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:169276400-169281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:169276400-169281200	Weak transcription	NH-A	brain
31	chr1:169276400-169281400	Weak transcription	HSMMtube	muscle
32	chr1:169276800-169304600	Weak transcription	Ovary	ovary
33	chr1:169277000-169281200	Weak transcription	HSMM	muscle
34	chr1:169277000-169294600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:169277000-169306200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:169277800-169280000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:169278000-169285800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:169278200-169279800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:169278400-169279200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:169278400-169279200	Active TSS	Brain Anterior Caudate	brain
41	chr1:169278400-169279200	Active TSS	Brain Germinal Matrix	brain
42	chr1:169278400-169279200	Flanking Active TSS	GM12878-XiMat	blood
43	chr1:169278400-169279400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:169278400-169279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:169278400-169279400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:169278400-169279400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr1:169278400-169279400	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:169278600-169279200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:169278600-169279200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr1:169278600-169279200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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