Variant report

Variant	rs9596174
Chromosome Location	chr13:50288725-50288726
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	chr13:50264322..50267072-chr13:50288561..50291011,2	K562	blood:

Variant related genes	Relation type
ENSG00000123179	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1043729	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];0.97[ASN][1000 genomes]
rs12585921	0.84[EUR][1000 genomes]
rs13313256	0.80[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17073322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073347	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17073356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1819191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1885723	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1969739	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1986085	0.84[EUR][1000 genomes]
rs1998363	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2181184	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs3736830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3742094	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3782929	1.00[CEU][hapmap];1.00[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]
rs3903770	1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs4941655	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4942862	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56738401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57118905	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57783887	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57794226	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58124341	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs60019803	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60106669	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60856213	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7318922	0.90[YRI][hapmap]
rs7321391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7334018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7335016	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7335310	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]
rs73483835	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73485710	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs765291	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs765292	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7984711	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989633	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7990293	0.89[ASN][1000 genomes]
rs7993631	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994062	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7996015	0.89[YRI][hapmap]
rs8002212	0.90[YRI][hapmap]
rs9535306	1.00[ASN][1000 genomes]
rs9562911	0.95[JPT][hapmap]
rs9591288	0.81[YRI][hapmap]
rs9591293	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9591294	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9591296	0.86[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596166	0.95[JPT][hapmap]
rs9596172	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596175	1.00[CEU][hapmap];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]
rs9596176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596181	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9596188	1.00[CEU][hapmap];1.00[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];0.83[ASN][1000 genomes]
rs9596189	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9596194	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266200-50289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:50266200-50289600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
4	chr13:50266200-50296000	Weak transcription	K562	blood
5	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:50266200-50307800	Weak transcription	Gastric	stomach
8	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:50266400-50289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr13:50266400-50293600	Weak transcription	Colonic Mucosa	Colon
11	chr13:50266400-50295800	Weak transcription	Small Intestine	intestine
12	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
13	chr13:50267200-50289400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:50272400-50295000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:50272400-50296000	Weak transcription	Fetal Heart	heart
16	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
17	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:50275800-50289200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr13:50275800-50290000	Weak transcription	Brain Substantia Nigra	brain
20	chr13:50276000-50289600	Weak transcription	Fetal Brain Male	brain
21	chr13:50276000-50289600	Weak transcription	Fetal Brain Female	brain
22	chr13:50276000-50291800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:50276000-50299800	Weak transcription	Right Ventricle	heart
24	chr13:50276000-50307600	Weak transcription	Pancreas	Pancrea
25	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix
26	chr13:50279800-50289200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:50280000-50308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr13:50280200-50295200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:50280400-50289400	Weak transcription	Fetal Kidney	kidney
30	chr13:50280400-50289600	Weak transcription	Brain Angular Gyrus	brain
31	chr13:50280400-50290200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:50280400-50291600	Weak transcription	HMEC	breast
33	chr13:50280600-50295800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:50280600-50296000	Weak transcription	Colon Smooth Muscle	Colon
35	chr13:50281800-50290200	Strong transcription	HSMM	muscle
36	chr13:50282000-50289600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr13:50282800-50289600	Weak transcription	Brain Germinal Matrix	brain
38	chr13:50283000-50289600	Weak transcription	Fetal Lung	lung
39	chr13:50283000-50296000	Weak transcription	HSMMtube	muscle
40	chr13:50283400-50294600	Weak transcription	Lung	lung
41	chr13:50283800-50289600	Weak transcription	NHEK	skin
42	chr13:50284000-50289600	Weak transcription	Osteobl	bone
43	chr13:50284000-50293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr13:50284200-50289400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:50284400-50289800	Weak transcription	Fetal Intestine Small	intestine
46	chr13:50284400-50290200	Weak transcription	Fetal Stomach	stomach
47	chr13:50284600-50292000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr13:50284800-50289600	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:50284800-50289600	Weak transcription	Thymus	Thymus
50	chr13:50284800-50289800	Weak transcription	Ovary	ovary

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