Variant report

Variant	rs73937430
Chromosome Location	chr2:64083199-64083200
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	chr2:64082903-64083597	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:64066677..64069203-chr2:64081708..64084913,3	MCF-7	breast:
2	chr2:64065422..64070588-chr2:64080925..64083417,5	K562	blood:
3	chr2:64066782..64070718-chr2:64080924..64091365,11	MCF-7	breast:

Variant related genes	Relation type
UGP2	TF binding region
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11895799	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902838	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4493246	1.00[AMR][1000 genomes]
rs56353821	0.87[AFR][1000 genomes]
rs56679885	1.00[AMR][1000 genomes]
rs57170440	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57562367	1.00[AMR][1000 genomes]
rs57724389	1.00[AMR][1000 genomes]
rs58127300	1.00[AMR][1000 genomes]
rs59148046	1.00[AMR][1000 genomes]
rs59886198	1.00[AMR][1000 genomes]
rs6716251	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726629	0.93[AFR][1000 genomes]
rs6749163	1.00[AMR][1000 genomes]
rs6749188	1.00[AMR][1000 genomes]
rs73934987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934992	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937270	0.90[AFR][1000 genomes]
rs73937432	1.00[AMR][1000 genomes]
rs7564727	0.81[AFR][1000 genomes]
rs7564984	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574047	1.00[AMR][1000 genomes]
rs7574933	1.00[AMR][1000 genomes]
rs7593707	1.00[AMR][1000 genomes]
rs7596420	1.00[AMR][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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64070200-64084600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:64070200-64103000	Weak transcription	Gastric	stomach
3	chr2:64070600-64083800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:64072000-64084200	Weak transcription	Esophagus	oesophagus
5	chr2:64072600-64084600	Weak transcription	Hela-S3	cervix
6	chr2:64073000-64083200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:64077000-64083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:64077000-64085000	Weak transcription	Brain Germinal Matrix	brain
9	chr2:64077000-64089000	Weak transcription	Fetal Brain Male	brain
10	chr2:64077000-64100200	Weak transcription	Ovary	ovary
11	chr2:64077200-64083400	Enhancers	Brain Substantia Nigra	brain
12	chr2:64077200-64084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:64077200-64084800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:64077200-64085000	Weak transcription	HMEC	breast
15	chr2:64077400-64084400	Weak transcription	Fetal Brain Female	brain
16	chr2:64077600-64083200	Weak transcription	Fetal Lung	lung
17	chr2:64077600-64083200	Weak transcription	NH-A	brain
18	chr2:64078000-64083600	Weak transcription	Osteobl	bone
19	chr2:64078000-64085000	Weak transcription	Fetal Kidney	kidney
20	chr2:64078000-64108000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:64079000-64083200	Enhancers	Primary T cells from cord blood	blood
22	chr2:64079400-64083400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:64079400-64084800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:64079400-64084800	Weak transcription	HSMMtube	muscle
25	chr2:64079600-64084400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:64079800-64084400	Weak transcription	HSMM	muscle
27	chr2:64080200-64083200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:64080600-64083200	Enhancers	Aorta	Aorta
29	chr2:64080600-64083600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:64081000-64083200	Enhancers	Thymus	Thymus
31	chr2:64081200-64084000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:64081400-64084000	Weak transcription	Lung	lung
33	chr2:64081400-64084200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:64081400-64084200	Weak transcription	Spleen	Spleen
35	chr2:64081400-64084600	Weak transcription	NHLF	lung
36	chr2:64081800-64083200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:64081800-64089800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:64081800-64100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:64082000-64083600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:64082000-64083800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:64082200-64083200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:64082200-64083400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:64082200-64083600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:64082200-64083800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:64082200-64083800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:64082200-64084200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:64082200-64085000	Weak transcription	Brain Anterior Caudate	brain
48	chr2:64082200-64085400	Genic enhancers	Liver	Liver
49	chr2:64082200-64089600	Weak transcription	Stomach Mucosa	stomach
50	chr2:64082200-64091400	Strong transcription	H1 Cell Line	embryonic stem cell

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