Variant report

Variant	rs2654222
Chromosome Location	chr15:82429837-82429838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:82337367..82339936-chr15:82429505..82432664,3	MCF-7	breast:
2	chr15:82423103..82426448-chr15:82429723..82433616,4	K562	blood:

Variant related genes	Relation type
ENSG00000183496	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1045508	0.89[GIH][hapmap]
rs12443224	0.89[GIH][hapmap]
rs13380317	0.84[GIH][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap]
rs13380319	0.86[GIH][hapmap]
rs1501371	0.84[GIH][hapmap]
rs1501372	0.84[GIH][hapmap]
rs2654223	0.95[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2665103	0.81[GIH][hapmap]
rs7183805	1.00[ASW][hapmap];0.86[CEU][hapmap];0.89[GIH][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs8042464	0.84[GIH][hapmap]

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	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2654222	AP3B2	cis	parietal	SCAN
rs2654222	CHRNB4	cis	parietal	SCAN
rs2654222	C15orf27	cis	cerebellum	SCAN
rs2654222	RP13-608F4.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82399000-82452200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:82406200-82430200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:82408000-82443600	Weak transcription	Aorta	Aorta
4	chr15:82408400-82431800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:82408800-82432400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:82415600-82430200	Weak transcription	Stomach Mucosa	stomach
7	chr15:82415600-82431800	Weak transcription	HUVEC	blood vessel
8	chr15:82416200-82443400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:82416200-82452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:82416400-82430400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:82416400-82431400	Strong transcription	Primary T cells from cord blood	blood
12	chr15:82416400-82454000	Weak transcription	Colonic Mucosa	Colon
13	chr15:82416600-82443800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:82419000-82431200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr15:82419200-82470600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:82420000-82457000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:82420200-82431200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:82420200-82431200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:82420200-82431200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:82420200-82431400	Strong transcription	Dnd41	blood
21	chr15:82420200-82432000	Weak transcription	Brain Anterior Caudate	brain
22	chr15:82420400-82458400	Weak transcription	HepG2	liver
23	chr15:82420600-82436200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:82420800-82431400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr15:82420800-82432000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:82421200-82432200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:82421200-82443800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:82421400-82431200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:82421400-82439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:82421600-82430400	Weak transcription	Small Intestine	intestine
31	chr15:82422400-82432000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:82422600-82430000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr15:82422600-82432000	Weak transcription	Brain Substantia Nigra	brain
34	chr15:82422800-82430400	Weak transcription	Fetal Kidney	kidney
35	chr15:82423000-82431200	Strong transcription	Fetal Intestine Large	intestine
36	chr15:82423000-82432400	Weak transcription	Ovary	ovary
37	chr15:82423000-82443600	Weak transcription	Right Ventricle	heart
38	chr15:82423000-82443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:82423200-82443800	Weak transcription	Psoas Muscle	Psoas
40	chr15:82423200-82454800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr15:82423600-82431200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:82423600-82432000	Weak transcription	Brain Angular Gyrus	brain
43	chr15:82424200-82431200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:82424400-82431200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:82424400-82431400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr15:82424600-82431200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:82425000-82431200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:82425000-82443400	Weak transcription	Fetal Intestine Small	intestine
49	chr15:82425400-82435800	Weak transcription	Fetal Stomach	stomach
50	chr15:82425400-82436200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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