Variant report

Variant	rs13193416
Chromosome Location	chr6:101299602-101299603
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:101286650..101289518-chr6:101298601..101300535,2	K562	blood:
2	chr6:101298656..101300924-chr6:101302449..101304215,2	MCF-7	breast:
3	chr6:101299454..101302050-chr6:101304670..101307311,3	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11155708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11758174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11759127	0.94[JPT][hapmap];1.00[YRI][hapmap]
rs12209186	0.93[ASN][1000 genomes]
rs13205402	0.81[ASN][1000 genomes]
rs13212730	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13220881	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17672397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1813223	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2004276	1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2398247	1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34555037	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34716527	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35432469	0.82[AFR][1000 genomes]
rs4840157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4840160	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4840164	0.81[ASN][1000 genomes]
rs599934	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs62420689	0.80[ASN][1000 genomes]
rs62422111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652335	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs669543	0.81[ASN][1000 genomes]
rs6917195	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694418	0.81[ASN][1000 genomes]
rs723742	0.88[CHB][hapmap]
rs7758630	0.81[ASN][1000 genomes]
rs9322270	0.81[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9322271	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9322276	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9377236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9377240	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9377241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9386258	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390698	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399695	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399697	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9404059	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9404060	0.85[ASN][1000 genomes]
rs979122	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9791225	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13193416	ASCC3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:101233600-101306600	Weak transcription	K562	blood
4	chr6:101253400-101304200	Weak transcription	Primary T cells from cord blood	blood
5	chr6:101269200-101326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:101275800-101314400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:101277400-101299800	Weak transcription	Esophagus	oesophagus
8	chr6:101277600-101299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:101278000-101306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:101278000-101313800	Weak transcription	Fetal Intestine Small	intestine
11	chr6:101281200-101317000	Weak transcription	Small Intestine	intestine
12	chr6:101282000-101311400	Weak transcription	Aorta	Aorta
13	chr6:101283000-101301600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:101284800-101304000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:101285000-101304400	Weak transcription	Brain Substantia Nigra	brain
16	chr6:101285600-101326600	Weak transcription	NHLF	lung
17	chr6:101287800-101313000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:101289200-101304800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:101289400-101302600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:101289800-101304400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:101290200-101304200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:101290200-101306600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:101290200-101318200	Weak transcription	Fetal Lung	lung
24	chr6:101290600-101312800	Weak transcription	Fetal Brain Male	brain
25	chr6:101290800-101311400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:101290800-101311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:101291200-101326400	Weak transcription	Brain Anterior Caudate	brain
28	chr6:101291400-101314000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:101291600-101314000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:101291800-101312800	Weak transcription	Gastric	stomach
31	chr6:101292600-101310800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:101293200-101299800	Weak transcription	Lung	lung
33	chr6:101294000-101320400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:101294200-101314200	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:101294600-101299800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:101294600-101307000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:101294600-101310800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:101294600-101311400	Weak transcription	Pancreas	Pancrea
39	chr6:101294600-101314400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:101294600-101320600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:101294600-101325400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr6:101294600-101328600	Weak transcription	Spleen	Spleen
43	chr6:101294800-101325600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:101295000-101299800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:101295000-101325800	Weak transcription	Brain Angular Gyrus	brain
46	chr6:101295000-101325800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:101295800-101303600	Weak transcription	NHDF-Ad	bronchial
48	chr6:101295800-101305000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:101296000-101303400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr6:101296000-101323400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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