Variant report

Variant	rs1187883
Chromosome Location	chr14:55488234-55488235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55487600..55490448-chr14:55495324..55498182,2	K562	blood:
2	chr14:55488106..55490294-chr14:55532250..55534527,2	MCF-7	breast:
3	chr14:55483185..55488779-chr14:55516333..55520140,7	MCF-7	breast:
4	chr14:55487384..55490083-chr14:55522243..55524186,2	MCF-7	breast:
5	chr14:55471271..55472969-chr14:55487006..55489202,2	K562	blood:
6	chr14:55485449..55489324-chr14:55491150..55494608,6	K562	blood:

Variant related genes	Relation type
ENSG00000233924	Chromatin interaction
ENSG00000198554	Chromatin interaction
ENSG00000180008	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1002054	0.82[CEU][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10135721	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10140164	0.85[JPT][hapmap]
rs10145170	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145268	0.84[CEU][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10220693	0.82[EUR][1000 genomes]
rs1107960	0.86[JPT][hapmap]
rs11849961	0.82[EUR][1000 genomes]
rs1187876	0.84[CEU][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1187877	0.85[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1187881	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1187882	0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1201378	0.85[CEU][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1209087	0.85[CEU][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13379159	0.81[CEU][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs17128120	0.93[JPT][hapmap]
rs17832311	0.81[CEU][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs2251366	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2878172	0.85[JPT][hapmap]
rs2878174	0.93[JPT][hapmap]
rs3742564	0.81[JPT][hapmap];0.81[YRI][hapmap]
rs4335711	0.86[JPT][hapmap]
rs56725788	0.83[EUR][1000 genomes]
rs6572999	0.81[CEU][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs6573000	0.82[EUR][1000 genomes]
rs7141975	0.83[EUR][1000 genomes]
rs7144652	0.80[JPT][hapmap];0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs7146285	0.93[JPT][hapmap]
rs7151224	0.84[EUR][1000 genomes]
rs7153937	0.86[JPT][hapmap]
rs7161656	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs748017	0.80[EUR][1000 genomes]
rs8005399	0.81[JPT][hapmap];0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs8008134	0.85[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8012152	0.93[JPT][hapmap]
rs8012156	0.81[JPT][hapmap]
rs8019390	0.86[JPT][hapmap]
rs8020545	0.86[JPT][hapmap]
rs8022049	0.93[JPT][hapmap]
rs8022238	0.81[EUR][1000 genomes]
rs8022405	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8023187	0.84[JPT][hapmap]
rs9323278	0.83[EUR][1000 genomes]
rs9806049	0.81[CEU][hapmap];0.81[YRI][hapmap];0.80[EUR][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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
3	chr14:55422400-55492400	Weak transcription	Fetal Kidney	kidney
4	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:55434000-55492800	Weak transcription	Primary B cells from cord blood	blood
6	chr14:55438600-55490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:55439400-55490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:55442200-55492800	Weak transcription	Fetal Intestine Large	intestine
9	chr14:55443400-55492200	Weak transcription	NHLF	lung
10	chr14:55454200-55492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:55458400-55492200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:55458400-55492200	Weak transcription	NH-A	brain
13	chr14:55468600-55492400	Weak transcription	Osteobl	bone
14	chr14:55468800-55492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:55472000-55493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:55472200-55491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:55472400-55489800	Weak transcription	NHEK	skin
18	chr14:55472400-55492000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:55472400-55492400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:55472400-55492400	Weak transcription	Thymus	Thymus
21	chr14:55472400-55492800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr14:55472600-55492000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:55472600-55492200	Weak transcription	Primary T cells from cord blood	blood
24	chr14:55472800-55491000	Weak transcription	Fetal Intestine Small	intestine
25	chr14:55472800-55492200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:55473000-55493400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:55475000-55492600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:55475400-55492200	Weak transcription	NHDF-Ad	bronchial
29	chr14:55475600-55490800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:55477800-55492200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:55477800-55492200	Weak transcription	Fetal Lung	lung
32	chr14:55477800-55492400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:55477800-55492400	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:55478000-55492200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:55479600-55490800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:55479800-55490200	Weak transcription	K562	blood
37	chr14:55480400-55491400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:55480400-55492200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:55480400-55492200	Weak transcription	HUVEC	blood vessel
40	chr14:55480400-55492400	Weak transcription	HSMM	muscle
41	chr14:55480600-55492000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:55482000-55492400	Weak transcription	HMEC	breast
43	chr14:55482400-55490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:55483200-55490800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:55484000-55490600	Weak transcription	Hela-S3	cervix
46	chr14:55484400-55492600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:55485200-55488400	Weak transcription	Dnd41	blood
48	chr14:55486000-55489800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:55486200-55490400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:55486400-55488800	Strong transcription	H1 Cell Line	embryonic stem cell

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