Variant report

Variant	rs2119731
Chromosome Location	chr4:77180612-77180613
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	chr4:77180475-77182047	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77156486..77158714-chr4:77178616..77181802,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272414	TF binding region
ENSG00000189157	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11097313	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs11097314	0.82[ASN][1000 genomes]
rs12643261	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs12651582	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs13122345	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs13137733	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1441910	0.88[JPT][hapmap]
rs1441914	0.88[JPT][hapmap]
rs17235935	0.83[CEU][hapmap]
rs17236158	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs17308336	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1876536	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1876537	0.82[ASN][1000 genomes]
rs1876539	0.88[JPT][hapmap]
rs2119732	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289514	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869863	0.83[ASN][1000 genomes]
rs2869864	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2869865	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869866	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904221	0.82[YRI][hapmap]
rs34034456	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638846	0.83[ASN][1000 genomes]
rs3733250	0.88[JPT][hapmap]
rs4859641	0.82[JPT][hapmap]
rs4859643	0.91[CEU][hapmap]
rs4859650	0.82[ASN][1000 genomes]
rs4859651	0.82[ASN][1000 genomes]
rs4859652	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4859653	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56060342	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58804635	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60397621	0.82[ASN][1000 genomes]
rs6813980	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814195	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823078	0.88[JPT][hapmap]
rs6835986	0.86[CEU][hapmap]
rs6849069	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851219	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs71607346	0.83[ASN][1000 genomes]
rs717239	0.81[CEU][hapmap]
rs7655112	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7677256	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7687964	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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	esv2760851	chr4:77164549-77185144	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77173600-77202000	Weak transcription	Psoas Muscle	Psoas
2	chr4:77173800-77185200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:77173800-77185400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:77173800-77185400	Weak transcription	Brain Anterior Caudate	brain
5	chr4:77173800-77186000	Weak transcription	Pancreas	Pancrea
6	chr4:77173800-77191400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:77173800-77196000	Weak transcription	Adipose Nuclei	Adipose
8	chr4:77173800-77215800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:77174000-77185600	Weak transcription	Brain Angular Gyrus	brain
10	chr4:77174200-77186000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:77176200-77186400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:77177800-77185400	Weak transcription	Aorta	Aorta
13	chr4:77177800-77199200	Weak transcription	Placenta	Placenta
14	chr4:77178400-77181600	Weak transcription	Stomach Mucosa	stomach
15	chr4:77178800-77185200	Weak transcription	Fetal Intestine Large	intestine
16	chr4:77178800-77201200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:77179000-77181400	Weak transcription	Liver	Liver
18	chr4:77179000-77186800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:77179400-77185000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:77179400-77185400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:77179600-77181400	Weak transcription	HepG2	liver
22	chr4:77180000-77202000	Weak transcription	Gastric	stomach
23	chr4:77180200-77185400	Weak transcription	Fetal Intestine Small	intestine

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