Variant report

Variant	rs13221480
Chromosome Location	chr7:97815343-97815344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97813734..97816516-chr7:97889057..97891236,2	MCF-7	breast:
2	chr7:97815298..97817791-chr7:97831369..97832934,2	MCF-7	breast:
3	chr7:97807675..97809773-chr7:97814476..97816065,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10215577	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10216274	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10227681	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10230846	0.86[ASN][1000 genomes]
rs10231625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10232153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241172	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10243993	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10252338	0.82[AMR][1000 genomes]
rs10256262	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10270280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10282336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10282640	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12704966	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12704976	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[ASN][1000 genomes]
rs13221415	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13228463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13228540	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13241860	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13247901	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1532381	0.90[ASN][1000 genomes]
rs16869462	0.85[YRI][hapmap]
rs17169317	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17169328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17169330	0.81[ASN][1000 genomes]
rs28415802	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28681561	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3148	0.84[YRI][hapmap]
rs34228515	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs34320281	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34353490	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35428901	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36081491	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6465655	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6958785	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6980318	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73404186	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7788997	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs951987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97763400-97821000	Weak transcription	NHLF	lung
2	chr7:97763600-97815800	Weak transcription	HSMM	muscle
3	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:97772400-97821600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:97782400-97819000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:97782400-97822000	Weak transcription	Fetal Kidney	kidney
7	chr7:97782400-97839800	Weak transcription	Fetal Brain Male	brain
8	chr7:97785200-97818600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:97787400-97822000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:97789200-97829400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:97793200-97822400	Weak transcription	Small Intestine	intestine
12	chr7:97793400-97818200	Weak transcription	Fetal Lung	lung
13	chr7:97793400-97841000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:97793800-97815600	Weak transcription	HUVEC	blood vessel
15	chr7:97799400-97815800	Weak transcription	HSMMtube	muscle
16	chr7:97799400-97818400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:97801200-97821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:97801800-97817000	Weak transcription	Colonic Mucosa	Colon
19	chr7:97802600-97816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:97804400-97815800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:97804400-97821000	Weak transcription	Hela-S3	cervix
22	chr7:97804400-97821200	Weak transcription	A549	lung
23	chr7:97804600-97818600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:97804600-97818600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:97804600-97820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:97804600-97821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:97804800-97816400	Weak transcription	GM12878-XiMat	blood
28	chr7:97804800-97818000	Weak transcription	Fetal Brain Female	brain
29	chr7:97805400-97815600	Weak transcription	K562	blood
30	chr7:97805400-97815800	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:97805400-97818000	Weak transcription	Brain Germinal Matrix	brain
32	chr7:97805600-97815600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:97805800-97817800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:97805800-97820800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:97806800-97815400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:97807200-97815600	Weak transcription	Adipose Nuclei	Adipose
37	chr7:97807800-97816800	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:97808000-97818400	Weak transcription	Aorta	Aorta
39	chr7:97808400-97816000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:97808400-97833600	Weak transcription	Stomach Mucosa	stomach
41	chr7:97808600-97818200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:97808600-97839800	Weak transcription	Right Atrium	heart
43	chr7:97808800-97815800	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:97808800-97818400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:97808800-97818400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:97808800-97818400	Weak transcription	Left Ventricle	heart
47	chr7:97808800-97818400	Weak transcription	Lung	lung
48	chr7:97808800-97818600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:97808800-97818800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:97808800-97820800	Weak transcription	Brain Angular Gyrus	brain

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