Variant report

Variant	rs7335310
Chromosome Location	chr13:50333864-50333865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1043729	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12585921	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13313256	0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17073322	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17073347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17073356	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1819191	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1885723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1986085	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1998363	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181184	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236326	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2407875	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs3736830	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3742094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782929	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][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];0.99[ASN][1000 genomes]
rs3903770	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs3990324	0.89[ASN][1000 genomes]
rs4941655	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4941656	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942862	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4942865	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56738401	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57118905	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57783887	0.92[EUR][1000 genomes]
rs57794226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58124341	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60019803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60106669	0.92[EUR][1000 genomes]
rs60856213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7318922	0.89[YRI][hapmap]
rs7321391	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7326885	0.81[AMR][1000 genomes]
rs7334018	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73483835	0.92[EUR][1000 genomes]
rs73485710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs765291	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs765292	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7984711	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7989633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7993631	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7993860	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7994062	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7996015	0.89[ASW][hapmap];0.89[YRI][hapmap]
rs8002212	0.89[YRI][hapmap]
rs9535306	0.83[ASN][1000 genomes]
rs9562911	0.95[JPT][hapmap]
rs9591288	0.81[YRI][hapmap]
rs9591293	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9591294	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9591296	0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596166	0.95[JPT][hapmap]
rs9596172	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596173	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596174	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596175	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596176	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596181	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9596188	1.00[CEU][hapmap];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];0.99[ASN][1000 genomes]
rs9596189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1038	chr13:50324773-50359990	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
2	chr13:50290000-50334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr13:50296600-50338600	Weak transcription	Ovary	ovary
4	chr13:50300600-50345600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:50303200-50334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:50306000-50351600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr13:50306200-50334200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:50306200-50336200	Weak transcription	Adipose Nuclei	Adipose
9	chr13:50308000-50356000	Weak transcription	Fetal Kidney	kidney
10	chr13:50315200-50336000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:50317600-50343600	Weak transcription	Primary T cells from cord blood	blood
12	chr13:50319600-50334800	Weak transcription	Fetal Lung	lung
13	chr13:50320400-50336800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:50320600-50334800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:50320600-50334800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr13:50320600-50337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:50320600-50337800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:50320800-50340400	Weak transcription	HUVEC	blood vessel
19	chr13:50321000-50363800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr13:50324400-50340400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr13:50324600-50334600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:50324600-50350800	Weak transcription	HSMM	muscle
23	chr13:50324600-50351000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:50324800-50338600	Weak transcription	Right Atrium	heart
25	chr13:50326200-50349000	Weak transcription	Left Ventricle	heart
26	chr13:50328200-50338600	Weak transcription	Right Ventricle	heart
27	chr13:50328400-50338600	Weak transcription	Pancreas	Pancrea
28	chr13:50328400-50349000	Weak transcription	Lung	lung
29	chr13:50328600-50334000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr13:50328600-50349000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr13:50330600-50334800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:50330800-50349000	Weak transcription	HepG2	liver
33	chr13:50333000-50334400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr13:50333000-50334400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr13:50333000-50335200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:50333200-50334600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr13:50333200-50335200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr13:50333400-50334200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:50333400-50334800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:50333400-50335200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:50333400-50335200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr13:50333400-50335200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr13:50333400-50335400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:50333400-50338800	Weak transcription	Fetal Heart	heart
45	chr13:50333600-50334000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:50333600-50334000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:50333600-50334000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr13:50333600-50334200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr13:50333600-50334400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr13:50333600-50335000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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