Variant report

Variant	rs17128292
Chromosome Location	chr14:55655291-55655292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55648437..55651811-chr14:55651962..55655981,4	K562	blood:
2	chr14:55634555..55636876-chr14:55655010..55657376,2	K562	blood:
3	chr14:55516908..55519746-chr14:55654326..55658338,3	K562	blood:
4	chr14:55653901..55655851-chr14:55656440..55658540,2	MCF-7	breast:
5	chr14:55654827..55657243-chr14:55881202..55883542,2	K562	blood:
6	chr14:55643693..55646676-chr14:55654219..55656043,3	K562	blood:

Variant related genes	Relation type
ENSG00000126787	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10130894	1.00[CHB][hapmap]
rs10139912	0.82[ASN][1000 genomes]
rs10144869	0.88[ASN][1000 genomes]
rs10146943	1.00[CHB][hapmap]
rs10483640	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10498474	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11845802	0.83[EUR][1000 genomes]
rs11850516	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11851023	0.88[ASN][1000 genomes]
rs11851945	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12323804	0.88[ASN][1000 genomes]
rs13379420	0.85[ASN][1000 genomes]
rs17128230	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128262	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128275	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128277	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128303	0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs17128323	0.88[ASN][1000 genomes]
rs17128370	1.00[CHB][hapmap]
rs17128434	1.00[CHB][hapmap]
rs1886784	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1887494	0.96[ASN][1000 genomes]
rs1952086	0.81[ASN][1000 genomes]
rs2075598	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274272	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28408795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436894	0.93[ASN][1000 genomes]
rs28681113	0.93[ASN][1000 genomes]
rs28883964	0.88[ASN][1000 genomes]
rs2985914	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759666	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4334208	0.85[ASN][1000 genomes]
rs55673612	0.90[ASN][1000 genomes]
rs55772085	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55848305	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55912862	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56192604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56358335	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57064758	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57196783	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57612384	0.88[ASN][1000 genomes]
rs57750925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58737648	0.93[ASN][1000 genomes]
rs59155162	0.88[ASN][1000 genomes]
rs59700273	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60023093	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60204830	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60715972	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6573004	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7141563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141706	0.82[ASN][1000 genomes]
rs7142831	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7145502	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7147172	0.88[ASN][1000 genomes]
rs7147666	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148663	1.00[CHB][hapmap]
rs7148957	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7148959	0.83[EUR][1000 genomes]
rs7149385	0.93[ASN][1000 genomes]
rs7150083	0.93[ASN][1000 genomes]
rs7152543	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153322	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153418	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7153651	0.81[YRI][hapmap]
rs7153958	0.88[ASN][1000 genomes]
rs7154368	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155704	0.88[ASN][1000 genomes]
rs7155729	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7155936	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156997	0.93[ASN][1000 genomes]
rs7157000	0.93[ASN][1000 genomes]
rs7157585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158989	0.85[ASN][1000 genomes]
rs7159530	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7160411	0.82[ASN][1000 genomes]
rs7160575	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7160642	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7160753	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7161502	0.81[AFR][1000 genomes]
rs7161564	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs72716670	0.93[ASN][1000 genomes]
rs74050920	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74050921	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74050928	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74050932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74050937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74050939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74050958	0.88[ASN][1000 genomes]
rs74050963	0.80[ASN][1000 genomes]
rs8004899	0.93[ASN][1000 genomes]
rs8005218	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8007038	1.00[CHB][hapmap]
rs8009009	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8009060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009181	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs8010751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010993	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8011980	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8012397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs8016444	0.88[ASN][1000 genomes]
rs8016716	0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs8017821	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8021832	0.87[ASN][1000 genomes]
rs8022101	0.90[ASN][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	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55598600-55656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55605200-55656000	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:55605400-55657000	Weak transcription	Fetal Kidney	kidney
4	chr14:55606600-55656000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55607000-55656000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:55610600-55655400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:55610600-55655600	Strong transcription	Dnd41	blood
8	chr14:55610800-55656000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:55611000-55656000	Weak transcription	Fetal Heart	heart
10	chr14:55611600-55656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:55613400-55657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:55623600-55657000	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:55629200-55655600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:55630200-55656600	Weak transcription	Fetal Brain Female	brain
15	chr14:55632400-55656200	Weak transcription	HSMM	muscle
16	chr14:55634200-55655400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:55634400-55656200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:55637200-55655600	Strong transcription	Fetal Thymus	thymus
19	chr14:55638200-55656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:55638600-55657200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:55645800-55656800	Weak transcription	Fetal Intestine Large	intestine
22	chr14:55645800-55657400	Weak transcription	Fetal Intestine Small	intestine
23	chr14:55646800-55657200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:55647400-55656000	Weak transcription	NH-A	brain
25	chr14:55647600-55655800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:55647800-55656000	Weak transcription	HMEC	breast
27	chr14:55647800-55656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:55648400-55656000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:55648400-55656200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:55648400-55656200	Weak transcription	NHLF	lung
31	chr14:55648400-55656600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:55648400-55656800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:55648800-55656200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:55649000-55656000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:55649000-55656000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:55649000-55656200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:55649200-55656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:55649800-55656000	Weak transcription	HepG2	liver
39	chr14:55649800-55657600	Weak transcription	Placenta	Placenta
40	chr14:55650200-55656000	Weak transcription	Fetal Lung	lung
41	chr14:55650600-55656200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:55651800-55656000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:55651800-55656000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:55651800-55656000	Weak transcription	NHEK	skin
45	chr14:55652000-55656000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:55652000-55656000	Weak transcription	A549	lung
47	chr14:55653000-55655800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:55653200-55655400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:55653200-55655800	Strong transcription	Hela-S3	cervix
50	chr14:55653200-55655800	Strong transcription	K562	blood

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