Variant report

Variant	rs8027348
Chromosome Location	chr15:57586614-57586615
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	chr15:57579113..57581094-chr15:57584110..57586984,2	K562	blood:
2	chr15:57576964..57581094-chr15:57584110..57586984,5	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11071307	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11071310	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11636655	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12324235	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593843	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12595074	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs17239222	0.94[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap]
rs17239459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17819940	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs17820018	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17820095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1867638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1870870	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2126402	0.94[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap]
rs2169468	0.94[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap]
rs2248620	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2290939	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2431032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2440972	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2440974	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2441924	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2591062	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2591066	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2593217	0.94[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs2593221	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2593223	0.87[EUR][1000 genomes]
rs2593233	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2593234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2593236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2615228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2703599	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2703600	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs2733304	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2733309	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2733318	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2733320	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2733329	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2733330	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2920270	0.94[CEU][hapmap]
rs2921430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957592	0.94[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap]
rs2962995	0.94[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs3794617	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4378569	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4774920	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56151428	0.82[EUR][1000 genomes]
rs6493909	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7165729	0.81[EUR][1000 genomes]
rs7167268	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7180513	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7182038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7182188	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72731974	0.82[EUR][1000 genomes]
rs72731986	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs734033	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs8024830	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8035097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8037987	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8042069	1.00[YRI][hapmap]
rs8042190	0.94[CEU][hapmap]
rs8042322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8043103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs935328	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv526342	chr15:57565859-57597280	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57537800-57598200	Weak transcription	Colonic Mucosa	Colon
2	chr15:57552200-57588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:57557600-57588600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:57566000-57591600	Weak transcription	Esophagus	oesophagus
5	chr15:57568000-57588400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:57568000-57590600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:57568200-57591600	Weak transcription	Psoas Muscle	Psoas
8	chr15:57573800-57589000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:57575000-57589200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:57578200-57589200	Weak transcription	Pancreas	Pancrea
11	chr15:57578600-57591600	Weak transcription	Spleen	Spleen
12	chr15:57578600-57598200	Weak transcription	Right Ventricle	heart
13	chr15:57578800-57588400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:57578800-57592800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:57579200-57588600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:57579200-57589600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:57579200-57592800	Weak transcription	Small Intestine	intestine
18	chr15:57579600-57589200	Weak transcription	Brain Substantia Nigra	brain
19	chr15:57579600-57598200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:57579800-57588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:57579800-57589200	Weak transcription	Brain Anterior Caudate	brain
22	chr15:57579800-57590400	Weak transcription	Brain Angular Gyrus	brain
23	chr15:57579800-57595000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:57580000-57588000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:57580000-57598400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr15:57580000-57598400	Weak transcription	Fetal Brain Male	brain
27	chr15:57580000-57598400	Weak transcription	NHEK	skin
28	chr15:57580200-57588600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:57580200-57588600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:57580200-57589000	Weak transcription	Fetal Brain Female	brain
31	chr15:57580200-57589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:57580400-57588800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:57580400-57589200	Weak transcription	HMEC	breast
34	chr15:57580600-57594800	Weak transcription	HepG2	liver
35	chr15:57580800-57589000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:57581000-57591600	Weak transcription	NHLF	lung
37	chr15:57581200-57591000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:57581400-57590800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr15:57581600-57595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr15:57581800-57590600	Weak transcription	NH-A	brain
41	chr15:57582200-57588600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:57583000-57587200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:57583200-57591600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:57583200-57591800	Weak transcription	Placenta	Placenta
45	chr15:57583400-57588600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:57583400-57588600	Weak transcription	Gastric	stomach
47	chr15:57583400-57588800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:57583400-57589400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:57583400-57590600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:57583400-57595000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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