Variant report

Variant	rs1387222
Chromosome Location	chr8:59555731-59555732
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59546806..59548980-chr8:59553502..59556348,2	K562	blood:
2	chr8:59542387..59544626-chr8:59555103..59557426,2	K562	blood:
3	chr8:59554274..59556738-chr8:59613834..59616221,2	K562	blood:
4	chr8:59546806..59548891-chr8:59553502..59555993,2	K562	blood:
5	chr8:59554141..59556473-chr8:59580448..59583882,4	K562	blood:
6	chr8:59543664..59545939-chr8:59554481..59557074,2	K562	blood:
7	chr8:59549409..59552023-chr8:59554891..59556606,2	K562	blood:
8	chr8:59554999..59558360-chr8:59569537..59571931,3	MCF-7	breast:
9	chr8:59554899..59558195-chr8:59561131..59563010,4	K562	blood:
10	chr8:59472892..59474558-chr8:59553037..59555731,2	K562	blood:
11	chr8:59554333..59557922-chr8:59563226..59566504,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10087843	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10088541	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10090212	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090837	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10091952	0.98[ASN][1000 genomes]
rs10112330	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10113323	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs10113830	0.98[ASN][1000 genomes]
rs10957063	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774998	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985566	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11994921	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12171670	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12679938	0.81[GIH][hapmap]
rs1352496	0.97[ASN][1000 genomes]
rs16923637	0.87[ASN][1000 genomes]
rs17206746	0.98[ASN][1000 genomes]
rs17272151	0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.87[TSI][hapmap];0.86[ASN][1000 genomes]
rs2130072	0.87[ASN][1000 genomes]
rs2326129	0.81[EUR][1000 genomes]
rs28429099	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28489122	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28755983	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28886919	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4266636	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4598239	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60567264	0.89[ASN][1000 genomes]
rs6471732	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985643	0.81[GIH][hapmap]
rs6998210	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006937	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7011066	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72647451	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7820921	0.81[GIH][hapmap]
rs7825739	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833791	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1387222	RAB2A	cis	cerebellum	SCAN
rs1387222	MOS	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
4	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
5	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:59535800-59561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:59535800-59561000	Weak transcription	Small Intestine	intestine
9	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
10	chr8:59541600-59559400	Weak transcription	HepG2	liver
11	chr8:59542800-59560800	Weak transcription	Fetal Brain Female	brain
12	chr8:59543000-59555800	Weak transcription	Psoas Muscle	Psoas
13	chr8:59543200-59555800	Weak transcription	Ovary	ovary
14	chr8:59543200-59555800	Weak transcription	Pancreas	Pancrea
15	chr8:59543200-59559600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:59543200-59559600	Weak transcription	Lung	lung
17	chr8:59543200-59564000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:59543200-59570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:59543200-59570200	Weak transcription	Fetal Kidney	kidney
20	chr8:59543400-59557800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:59543400-59564000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:59543400-59564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:59543400-59564200	Weak transcription	Right Ventricle	heart
24	chr8:59543400-59570000	Weak transcription	Brain Angular Gyrus	brain
25	chr8:59543600-59557800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:59545400-59556000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:59545600-59564000	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:59545800-59559800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:59546000-59558000	Weak transcription	Spleen	Spleen
30	chr8:59546000-59559600	Weak transcription	Gastric	stomach
31	chr8:59546000-59560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:59546000-59561200	Weak transcription	Esophagus	oesophagus
33	chr8:59546200-59560200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:59546200-59561400	Weak transcription	Aorta	Aorta
35	chr8:59546200-59563800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:59546400-59559400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:59547200-59557400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:59547200-59570200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:59547600-59564000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:59549600-59559400	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:59551000-59555800	Weak transcription	Left Ventricle	heart
42	chr8:59551000-59560000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:59551000-59560200	Weak transcription	Fetal Stomach	stomach
44	chr8:59551000-59560600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:59551000-59570400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:59551200-59560400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:59551200-59561200	Weak transcription	Placenta	Placenta
48	chr8:59551400-59557800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:59551400-59560000	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:59551600-59559400	Weak transcription	Fetal Heart	heart

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