Variant report

Variant	rs9788517
Chromosome Location	chr14:68261897-68261898
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	chr14:68254823..68256848-chr14:68259298..68262238,2	MCF-7	breast:
2	chr14:68251188..68252835-chr14:68260230..68262812,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10132828	1.00[CEU][hapmap]
rs10133485	1.00[CEU][hapmap]
rs10133652	1.00[CEU][hapmap]
rs10135316	1.00[CEU][hapmap]
rs10135925	1.00[CEU][hapmap]
rs10137712	1.00[CEU][hapmap]
rs10143219	1.00[CEU][hapmap]
rs10143895	1.00[CEU][hapmap]
rs10144128	1.00[CEU][hapmap]
rs10145884	1.00[CEU][hapmap]
rs10146719	1.00[CEU][hapmap]
rs10146766	1.00[CEU][hapmap]
rs10146831	1.00[CEU][hapmap]
rs10147569	1.00[CEU][hapmap]
rs10148893	1.00[CEU][hapmap]
rs10151123	1.00[CEU][hapmap]
rs10151317	1.00[CEU][hapmap]
rs10450891	1.00[CEU][hapmap]
rs11158710	1.00[CEU][hapmap]
rs1118397	1.00[CEU][hapmap]
rs11625742	1.00[CEU][hapmap]
rs17104681	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17104689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17104700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17104774	1.00[CEU][hapmap]
rs17104783	1.00[CEU][hapmap]
rs17104786	1.00[CEU][hapmap]
rs17104793	1.00[CEU][hapmap]
rs17104796	1.00[CEU][hapmap]
rs17104799	1.00[CEU][hapmap]
rs17104823	1.00[CEU][hapmap]
rs17104824	1.00[CEU][hapmap]
rs17104827	1.00[CEU][hapmap]
rs17104829	1.00[CEU][hapmap]
rs17783202	1.00[CEU][hapmap]
rs1812250	0.82[EUR][1000 genomes]
rs1950766	1.00[CEU][hapmap]
rs1955469	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2180537	1.00[CEU][hapmap]
rs34663731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34768780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34787467	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34935709	1.00[EUR][1000 genomes]
rs35588855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35608268	0.82[EUR][1000 genomes]
rs35927243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3742882	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3742883	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3742884	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3742885	1.00[CEU][hapmap]
rs4899229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902523	1.00[CEU][hapmap]
rs4902530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6573802	1.00[CEU][hapmap]
rs7141203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7143377	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7143521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7147296	1.00[CEU][hapmap]
rs7149122	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7149351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7149356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7149360	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7149460	1.00[CEU][hapmap]
rs7149796	1.00[CEU][hapmap]
rs7150467	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7150860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7152445	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152727	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154725	1.00[CEU][hapmap]
rs7156492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7157550	1.00[CEU][hapmap]
rs7157720	1.00[CEU][hapmap]
rs7159786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs742867	1.00[JPT][hapmap]
rs8006175	1.00[CEU][hapmap]
rs8007989	1.00[CEU][hapmap]
rs8008791	1.00[CEU][hapmap]
rs8012665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8015595	1.00[CEU][hapmap]
rs8015741	1.00[CEU][hapmap]
rs8017930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8020512	1.00[CEU][hapmap]
rs932474	0.82[EUR][1000 genomes]
rs932475	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9652362	1.00[CEU][hapmap]
rs9652363	1.00[CEU][hapmap]
rs9652364	1.00[CEU][hapmap]
rs9796374	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:68213800-68280600	Strong transcription	Liver	Liver
6	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
10	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
11	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:68226400-68262200	Strong transcription	Fetal Brain Female	brain
16	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:68226400-68276000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:68226400-68277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:68226400-68278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:68226400-68281000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:68226800-68280800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:68229200-68272800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:68229200-68281200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:68229800-68281000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:68230400-68265400	Strong transcription	Colon Smooth Muscle	Colon
31	chr14:68230800-68280200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:68231600-68280800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:68232200-68279600	Strong transcription	Fetal Intestine Large	intestine
34	chr14:68232400-68267000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr14:68232600-68280000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:68232800-68276800	Strong transcription	Fetal Intestine Small	intestine
37	chr14:68232800-68280800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr14:68233800-68280800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:68233800-68280800	Strong transcription	Placenta	Placenta
40	chr14:68234200-68280200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr14:68234600-68278000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr14:68234600-68280200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr14:68237800-68277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:68238200-68262400	Strong transcription	Brain Angular Gyrus	brain
45	chr14:68239000-68264600	Weak transcription	Stomach Mucosa	stomach
46	chr14:68252200-68280400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:68252600-68277800	Strong transcription	Left Ventricle	heart
48	chr14:68252800-68277800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:68253400-68267800	Weak transcription	K562	blood
50	chr14:68253600-68263800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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