Variant report

Variant	rs17104953
Chromosome Location	chr14:68579311-68579312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68574384..68576780-chr14:68577094..68579795,2	MCF-7	breast:
2	chr14:68569325..68572968-chr14:68576089..68579365,3	MCF-7	breast:
3	chr14:68577333..68579172-chr14:68579200..68581367,2	MCF-7	breast:
4	chr14:68573827..68576752-chr14:68577004..68581266,3	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10129612	0.86[JPT][hapmap]
rs10132711	0.84[JPT][hapmap]
rs10133770	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10134124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10134320	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];0.96[ASN][1000 genomes]
rs10134664	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10135046	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10135256	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10135316	0.88[JPT][hapmap]
rs10135925	0.86[JPT][hapmap]
rs10137330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137457	1.00[JPT][hapmap]
rs10137712	0.86[JPT][hapmap]
rs10140465	0.84[ASN][1000 genomes]
rs10141018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10143219	0.88[JPT][hapmap]
rs10143895	0.88[JPT][hapmap]
rs10144128	0.86[JPT][hapmap]
rs10144224	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10145197	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145820	0.84[ASN][1000 genomes]
rs10146719	0.88[JPT][hapmap]
rs10146766	0.86[JPT][hapmap]
rs10146831	0.84[JPT][hapmap]
rs10147311	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10147569	0.86[JPT][hapmap]
rs10148713	1.00[EUR][1000 genomes]
rs10149801	0.81[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10150584	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10150789	0.84[ASN][1000 genomes]
rs10151123	0.88[JPT][hapmap]
rs10151317	0.88[JPT][hapmap]
rs10450891	0.88[JPT][hapmap]
rs10873211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158710	0.86[JPT][hapmap]
rs11158720	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11849196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851597	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11851991	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17104774	0.88[JPT][hapmap]
rs17104783	0.84[JPT][hapmap]
rs17104786	0.86[JPT][hapmap]
rs17104793	0.88[JPT][hapmap]
rs17104796	0.86[JPT][hapmap]
rs17104799	0.88[JPT][hapmap]
rs17104823	0.86[JPT][hapmap]
rs17104824	0.88[JPT][hapmap]
rs17104827	0.88[JPT][hapmap]
rs17104829	0.88[JPT][hapmap]
rs17104862	1.00[JPT][hapmap]
rs17104863	1.00[JPT][hapmap]
rs17104880	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17104900	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17104917	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17104947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104992	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105001	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1950766	0.86[JPT][hapmap]
rs1951411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057361	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2180537	0.86[JPT][hapmap]
rs2767364	1.00[EUR][1000 genomes]
rs28372014	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28448732	0.84[ASN][1000 genomes]
rs28716846	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34370899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902550	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60562079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60841871	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573802	0.84[JPT][hapmap]
rs6573815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145089	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7147296	0.86[JPT][hapmap]
rs7147522	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]
rs7147935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7148799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149343	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];0.96[ASN][1000 genomes]
rs7149460	0.88[JPT][hapmap]
rs7150716	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]
rs7153978	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154228	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];0.96[ASN][1000 genomes]
rs7154645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154725	0.88[JPT][hapmap]
rs7155152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7157152	0.82[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]
rs7157550	0.88[JPT][hapmap]
rs7157720	0.88[JPT][hapmap]
rs7160068	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161070	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73286292	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359083	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8007347	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8008413	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008791	0.86[JPT][hapmap]
rs8011367	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012493	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8013061	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015741	0.86[JPT][hapmap]
rs8018029	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8020512	0.86[JPT][hapmap]
rs957930	1.00[JPT][hapmap]
rs9652362	0.88[JPT][hapmap]
rs9652363	0.88[JPT][hapmap]
rs9652364	0.88[JPT][hapmap]
rs9672111	1.00[JPT][hapmap]
rs9796374	0.86[JPT][hapmap]

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68571800-68580200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68572000-68580200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:68573600-68579400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:68573600-68580200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:68573800-68591800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:68575200-68580800	Enhancers	NHDF-Ad	bronchial
7	chr14:68575800-68579400	Enhancers	Fetal Stomach	stomach
8	chr14:68575800-68579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:68575800-68579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:68576000-68580800	Enhancers	Fetal Intestine Large	intestine
11	chr14:68576000-68581000	Enhancers	Fetal Intestine Small	intestine
12	chr14:68576200-68579400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr14:68576200-68580000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:68576400-68580200	Weak transcription	Osteobl	bone
15	chr14:68576400-68592000	Weak transcription	Psoas Muscle	Psoas
16	chr14:68576600-68580000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:68576600-68580200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:68576800-68579400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:68577400-68581000	Enhancers	Fetal Kidney	kidney
20	chr14:68577800-68579400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:68577800-68579400	Enhancers	Brain Germinal Matrix	brain
22	chr14:68577800-68579400	Enhancers	Fetal Muscle Leg	muscle
23	chr14:68577800-68580800	Enhancers	Duodenum Mucosa	Duodenum
24	chr14:68578200-68579400	Enhancers	Small Intestine	intestine
25	chr14:68578400-68579400	Enhancers	Fetal Thymus	thymus
26	chr14:68578400-68580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:68578400-68583400	Weak transcription	HepG2	liver
28	chr14:68578600-68580200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:68578600-68580800	Enhancers	Fetal Lung	lung
30	chr14:68578600-68592800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:68578800-68580000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:68578800-68580200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:68578800-68580200	Weak transcription	Adipose Nuclei	Adipose
34	chr14:68578800-68584200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:68578800-68590800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:68579000-68580200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:68579000-68584200	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:68579200-68579400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:68579200-68580800	Enhancers	Fetal Heart	heart
40	chr14:68579200-68581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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