Variant report

Variant	rs9652383
Chromosome Location	chr14:81837913-81837914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81837694..81839198-chr14:81840938..81842642,2	MCF-7	breast:
2	chr14:81829800..81831897-chr14:81837300..81840056,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1003258	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135926	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146094	0.82[AMR][1000 genomes]
rs10147416	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10148622	0.84[YRI][hapmap]
rs12588572	0.91[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1569012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17111790	0.91[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2145123	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2371596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2371599	0.82[CHB][hapmap]
rs2371602	0.81[CHB][hapmap]
rs28476767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825606	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844534	0.91[CHB][hapmap]
rs3853419	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3853420	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3853421	0.80[ASN][1000 genomes]
rs3915222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4110460	0.81[ASN][1000 genomes]
rs4110462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4275784	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4290414	0.91[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4903982	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574649	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574650	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574653	0.81[CHB][hapmap]
rs7153104	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153556	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7153600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7160907	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72703752	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72703760	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8018198	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8020806	0.81[ASN][1000 genomes]
rs8022070	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81831000-81849400	Weak transcription	Fetal Kidney	kidney
2	chr14:81831200-81839400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:81832400-81838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:81832800-81838000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:81833000-81838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:81833000-81838000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:81833000-81838000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:81833000-81839000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:81833000-81841400	Weak transcription	Spleen	Spleen
10	chr14:81833200-81839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:81833200-81843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:81833200-81850800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:81833400-81838000	Weak transcription	HMEC	breast
15	chr14:81833600-81838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:81833600-81839800	Weak transcription	Brain Anterior Caudate	brain
17	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
18	chr14:81834400-81838000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:81834400-81839200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:81835600-81839000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:81835800-81843800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:81835800-81851200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:81836400-81885800	Weak transcription	Gastric	stomach
24	chr14:81837000-81858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:81837200-81838000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:81837200-81847800	Weak transcription	K562	blood
27	chr14:81837400-81838000	Weak transcription	NHEK	skin
28	chr14:81837400-81838200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:81837600-81838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:81837600-81838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:81837600-81838200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:81837600-81838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:81837600-81839400	Weak transcription	Liver	Liver
34	chr14:81837600-81839400	Weak transcription	Ovary	ovary
35	chr14:81837600-81839800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:81837600-81840600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:81837600-81840800	Weak transcription	Psoas Muscle	Psoas
38	chr14:81837600-81843800	Weak transcription	Adipose Nuclei	Adipose
39	chr14:81837600-81844600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:81837600-81846800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:81837600-81849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:81837600-81850200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:81837600-81850800	Weak transcription	Esophagus	oesophagus
44	chr14:81837600-81856200	Weak transcription	Fetal Muscle Leg	muscle

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