Variant report

Variant	rs74124643
Chromosome Location	chr1:161092853-161092854
allele	A/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	POLR2A	chr1:161092039-161092914	K562	blood:	n/a	n/a
2	POLR2A	chr1:161088528-161093133	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr1:161092650-161093079	K562	blood:	n/a	n/a
4	POLR2A	chr1:161092759-161093167	HCT-116	colon:	n/a	n/a
5	POLR2A	chr1:161092696-161093077	K562	blood:	n/a	n/a
6	POLR2A	chr1:161087193-161093161	K562	blood:	n/a	n/a
7	POLR2A	chr1:161091911-161092919	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:161092753-161092885	K562	blood:	n/a	n/a
9	POLR2A	chr1:161088425-161092934	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr1:161086846-161093206	HCT-116	colon:	n/a	n/a
11	POLR2A	chr1:161092614-161092970	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr1:161092767-161093056	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161090655..161093373-chr1:161122208..161123961,2	K562	blood:
2	chr1:161087644..161090411-chr1:161091047..161093713,3	MCF-7	breast:

Variant related genes	Relation type
PFDN2	TF binding region
ENSG00000143256	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000143222	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55675252	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56758346	0.91[AFR][1000 genomes]
rs57560345	0.83[AFR][1000 genomes]
rs61642842	0.83[AFR][1000 genomes]
rs74124633	1.00[AMR][1000 genomes]
rs74124646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124647	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124650	0.83[AFR][1000 genomes]
rs74124653	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 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	chr1:161088800-161101400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:161089400-161094400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:161089400-161099600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:161089600-161093000	Genic enhancers	Primary B cells from cord blood	blood
5	chr1:161089600-161099000	Strong transcription	Thymus	Thymus
6	chr1:161089600-161099200	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr1:161089600-161099600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:161089600-161099600	Strong transcription	Fetal Lung	lung
9	chr1:161089600-161100200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:161089600-161100400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:161089600-161100400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:161089800-161094200	Strong transcription	Fetal Kidney	kidney
13	chr1:161089800-161094400	Strong transcription	Lung	lung
14	chr1:161089800-161094600	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr1:161089800-161094600	Strong transcription	Aorta	Aorta
16	chr1:161089800-161097400	Strong transcription	Primary T cells from cord blood	blood
17	chr1:161089800-161097800	Strong transcription	Brain Germinal Matrix	brain
18	chr1:161089800-161099000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:161089800-161099000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:161089800-161099600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:161089800-161099600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:161089800-161099600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:161089800-161099600	Strong transcription	Fetal Stomach	stomach
24	chr1:161089800-161099800	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr1:161089800-161100200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:161089800-161100400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:161090000-161094400	Strong transcription	HepG2	liver
28	chr1:161090000-161094600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:161090000-161094800	Strong transcription	Esophagus	oesophagus
30	chr1:161090000-161095000	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr1:161090000-161096600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:161090000-161097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:161090000-161097400	Strong transcription	Fetal Thymus	thymus
34	chr1:161090000-161099000	Strong transcription	A549	lung
35	chr1:161090000-161099200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:161090000-161099400	Strong transcription	Brain Angular Gyrus	brain
37	chr1:161090000-161099600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:161090000-161099800	Strong transcription	Osteobl	bone
39	chr1:161090000-161100000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:161090000-161100200	Strong transcription	Fetal Brain Female	brain
41	chr1:161090200-161093600	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:161090200-161094200	Strong transcription	NH-A	brain
43	chr1:161090200-161094400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:161090200-161094400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:161090200-161094400	Strong transcription	Rectal Smooth Muscle	rectum
46	chr1:161090200-161094600	Strong transcription	Right Ventricle	heart
47	chr1:161090200-161097600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:161090200-161097600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:161090200-161098200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:161090200-161099000	Strong transcription	HUVEC	blood vessel

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