Variant report

Variant	rs12908278
Chromosome Location	chr15:57583780-57583781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57575333..57577796-chr15:57582092..57585036,2	K562	blood:
2	chr15:57582041..57585604-chr15:57586782..57591985,5	K562	blood:
3	chr15:57582135..57584182-chr15:57589221..57591985,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1037956	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1037958	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10518899	0.80[EUR][1000 genomes]
rs11071309	0.80[ASN][1000 genomes]
rs11629653	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11630910	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11631084	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11632069	0.80[ASN][1000 genomes]
rs11634352	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11635440	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636340	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11637955	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11856073	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11857507	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11857722	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11858783	0.80[ASN][1000 genomes]
rs12899036	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12899588	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12901671	0.85[EUR][1000 genomes]
rs12902099	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12902170	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12902581	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12903115	0.81[EUR][1000 genomes]
rs12903151	0.84[EUR][1000 genomes]
rs12903221	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12904189	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12904321	0.82[EUR][1000 genomes]
rs12904501	0.82[EUR][1000 genomes]
rs12904933	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12906042	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12906335	0.82[ASN][1000 genomes]
rs12906566	0.85[EUR][1000 genomes]
rs12908760	0.82[EUR][1000 genomes]
rs12909016	0.85[EUR][1000 genomes]
rs12909696	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12910109	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12911256	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12911297	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12911518	0.81[EUR][1000 genomes]
rs12912353	0.85[EUR][1000 genomes]
rs12912868	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12914425	0.81[EUR][1000 genomes]
rs12914481	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12915489	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12916478	0.81[EUR][1000 genomes]
rs12917093	0.85[EUR][1000 genomes]
rs1462156	0.81[EUR][1000 genomes]
rs1545728	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17239431	0.86[EUR][1000 genomes]
rs17239508	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1814585	0.82[EUR][1000 genomes]
rs1867641	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2278685	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2290938	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2414491	0.80[EUR][1000 genomes]
rs2414492	0.84[EUR][1000 genomes]
rs2431023	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441925	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2593235	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2593237	0.81[ASN][1000 genomes]
rs2593238	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3794613	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4238321	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4238322	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4303429	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4353440	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4369592	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4447362	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4774251	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4774252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4774918	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4774919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5014892	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61996955	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61996957	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7161965	0.81[ASN][1000 genomes]
rs898901	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs935326	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs960946	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs978274	0.86[EUR][1000 genomes];0.80[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57522800-57585000	Strong transcription	Fetal Thymus	thymus
2	chr15:57537800-57598200	Weak transcription	Colonic Mucosa	Colon
3	chr15:57552200-57588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:57553200-57585000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:57557000-57584600	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:57557600-57588600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:57562600-57584200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr15:57562600-57584600	Strong transcription	Fetal Muscle Leg	muscle
9	chr15:57564800-57584600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:57565600-57584600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:57566000-57584400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:57566000-57591600	Weak transcription	Esophagus	oesophagus
13	chr15:57568000-57588400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:57568000-57590600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:57568200-57591600	Weak transcription	Psoas Muscle	Psoas
16	chr15:57568600-57583800	Strong transcription	Fetal Intestine Large	intestine
17	chr15:57571400-57584800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:57572200-57584200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:57573800-57589000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:57575000-57589200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:57578200-57589200	Weak transcription	Pancreas	Pancrea
22	chr15:57578600-57591600	Weak transcription	Spleen	Spleen
23	chr15:57578600-57598200	Weak transcription	Right Ventricle	heart
24	chr15:57578800-57588400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:57578800-57592800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:57579200-57585000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:57579200-57585600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:57579200-57588600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:57579200-57589600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:57579200-57592800	Weak transcription	Small Intestine	intestine
31	chr15:57579600-57589200	Weak transcription	Brain Substantia Nigra	brain
32	chr15:57579600-57598200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:57579800-57588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:57579800-57589200	Weak transcription	Brain Anterior Caudate	brain
35	chr15:57579800-57590400	Weak transcription	Brain Angular Gyrus	brain
36	chr15:57579800-57595000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:57580000-57584600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:57580000-57588000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:57580000-57598400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:57580000-57598400	Weak transcription	Fetal Brain Male	brain
41	chr15:57580000-57598400	Weak transcription	NHEK	skin
42	chr15:57580200-57588600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:57580200-57588600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:57580200-57589000	Weak transcription	Fetal Brain Female	brain
45	chr15:57580200-57589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:57580400-57585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:57580400-57588800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:57580400-57589200	Weak transcription	HMEC	breast
49	chr15:57580600-57594800	Weak transcription	HepG2	liver
50	chr15:57580800-57584400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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