Variant report

Variant	rs12880014
Chromosome Location	chr14:81249956-81249957
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81249341..81250916-chr14:81251275..81253890,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1016507	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1025253	0.87[CHB][hapmap]
rs11623023	0.85[AMR][1000 genomes]
rs11623416	0.80[CHB][hapmap]
rs12431821	1.00[CHB][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes]
rs12878945	0.82[CHB][hapmap]
rs12886388	0.84[AMR][1000 genomes]
rs12888082	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12891585	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12892825	0.80[JPT][hapmap]
rs12895801	0.80[CHB][hapmap]
rs12896065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1458993	1.00[CHB][hapmap]
rs1597320	0.96[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17542615	1.00[CHB][hapmap]
rs17542712	0.82[CHB][hapmap]
rs17613911	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17614081	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1797670	0.84[CHB][hapmap]
rs1992973	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2217176	0.87[CHB][hapmap]
rs2246617	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228120	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs2371413	0.96[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2371416	0.93[CHB][hapmap]
rs2371457	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs2590480	0.96[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2596118	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34848301	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3742721	0.80[JPT][hapmap]
rs3742722	0.80[JPT][hapmap]
rs4523859	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899782	0.80[CHB][hapmap]
rs4903948	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs61979448	0.86[AMR][1000 genomes]
rs61979449	0.85[AMR][1000 genomes]
rs61979451	0.86[AMR][1000 genomes]
rs61979452	0.86[AMR][1000 genomes]
rs6574605	0.96[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7141434	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7145233	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148368	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs7148618	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7150858	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs7153979	0.87[CHB][hapmap]
rs7154132	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs759916	0.93[CHB][hapmap];1.00[YRI][hapmap]
rs8005809	0.96[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8006864	1.00[YRI][hapmap]
rs8016601	1.00[YRI][hapmap]
rs8017943	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8021137	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs8022411	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs8023233	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
5	chr14:81223200-81250800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr14:81227000-81260800	Weak transcription	NH-A	brain
7	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:81231200-81251400	Weak transcription	A549	lung
9	chr14:81232000-81251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:81235200-81253600	Weak transcription	HMEC	breast
12	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:81236600-81251200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:81237400-81260600	Weak transcription	Right Ventricle	heart
15	chr14:81237600-81255800	Weak transcription	NHLF	lung
16	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas
17	chr14:81238000-81267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:81238800-81251400	Weak transcription	Ovary	ovary
19	chr14:81239200-81250800	Weak transcription	Aorta	Aorta
20	chr14:81239200-81251000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:81239200-81258800	Weak transcription	Adipose Nuclei	Adipose
22	chr14:81239400-81250800	Weak transcription	Left Ventricle	heart
23	chr14:81239400-81257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:81239400-81260200	Weak transcription	NHEK	skin
25	chr14:81240800-81260800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:81241000-81263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:81242200-81261000	Weak transcription	Liver	Liver
28	chr14:81243800-81250800	Weak transcription	Thymus	Thymus
29	chr14:81243800-81251400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:81243800-81259000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:81243800-81261200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:81244000-81251400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:81246200-81259000	Weak transcription	Lung	lung
34	chr14:81246800-81271600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:81247200-81252400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:81248000-81255400	Strong transcription	Fetal Thymus	thymus
37	chr14:81248400-81251800	Strong transcription	Dnd41	blood
38	chr14:81248600-81251200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:81248600-81258400	Weak transcription	HSMM	muscle
40	chr14:81248600-81263200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:81249000-81250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:81249000-81260600	Weak transcription	HUVEC	blood vessel
43	chr14:81249000-81266600	Weak transcription	Primary T cells from cord blood	blood
44	chr14:81249400-81253800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:81249400-81258600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:81249600-81261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:81249800-81261200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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