Variant report

Variant	rs2047356
Chromosome Location	chr5:178325061-178325062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178324334..178326418-chr5:178335750..178338330,2	K562	blood:
2	chr5:178306684..178308564-chr5:178323715..178325258,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213328	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1046724	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249600	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11740486	0.82[EUR][1000 genomes]
rs11744810	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745435	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748636	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749871	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11955491	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955549	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11956161	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516516	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13166562	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13171869	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13182467	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13183468	0.82[EUR][1000 genomes]
rs13189231	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13189941	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1496948	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1566105	0.93[EUR][1000 genomes]
rs17652441	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1826863	0.82[EUR][1000 genomes]
rs1845939	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34904538	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35245718	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35974815	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35984063	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6600996	0.83[EUR][1000 genomes]
rs6894647	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6897952	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7445002	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7448421	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7448445	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7722159	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7722441	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953741	0.84[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	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178323600-178325400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:178323600-178325400	Weak transcription	Lung	lung
3	chr5:178323600-178325600	Weak transcription	Aorta	Aorta
4	chr5:178323600-178326000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:178323600-178327400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:178323600-178328000	Weak transcription	Fetal Lung	lung
7	chr5:178323600-178328200	Weak transcription	Gastric	stomach
8	chr5:178323600-178328600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:178323600-178331200	Weak transcription	Pancreas	Pancrea
10	chr5:178323600-178332800	Weak transcription	Left Ventricle	heart
11	chr5:178323600-178335400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:178323800-178325400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:178323800-178325400	Weak transcription	HepG2	liver
14	chr5:178323800-178325600	Weak transcription	Fetal Stomach	stomach
15	chr5:178323800-178325600	Weak transcription	Ovary	ovary
16	chr5:178323800-178325800	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:178323800-178328200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:178323800-178329000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:178323800-178329600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:178323800-178329800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:178323800-178331000	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:178323800-178332800	Weak transcription	Placenta	Placenta
23	chr5:178323800-178332800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:178323800-178333800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:178323800-178336200	Weak transcription	Right Ventricle	heart
26	chr5:178323800-178336400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:178324000-178327000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:178324000-178328000	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:178324000-178328200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:178324000-178328200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:178324000-178328400	Weak transcription	Brain Substantia Nigra	brain
32	chr5:178324000-178332800	Weak transcription	Brain Angular Gyrus	brain
33	chr5:178324000-178332800	Weak transcription	Brain Anterior Caudate	brain
34	chr5:178324400-178326200	Weak transcription	Fetal Brain Female	brain
35	chr5:178324400-178327600	Weak transcription	Brain Germinal Matrix	brain
36	chr5:178325000-178325200	Enhancers	Fetal Brain Male	brain

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