Variant report

Variant	rs705609
Chromosome Location	chr6:101326794-101326795
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr6:101326443-101326891	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101326042..101328536-chr6:101641903..101644507,2	K562	blood:
2	chr6:101319726..101322538-chr6:101323434..101327261,5	K562	blood:

Variant related genes	Relation type
ENSG00000260000	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11155726	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189857	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061230	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2749130	1.00[ASN][1000 genomes]
rs2756040	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2895068	0.80[EUR][1000 genomes]
rs4839795	1.00[ASN][1000 genomes]
rs592463	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596601	1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap]
rs600653	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601360	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606032	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609522	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612117	1.00[ASN][1000 genomes]
rs612459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613338	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614097	1.00[ASN][1000 genomes]
rs617365	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625745	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626411	1.00[ASN][1000 genomes]
rs635258	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640315	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648360	0.83[EUR][1000 genomes]
rs668932	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673138	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674589	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705594	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705595	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705598	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705601	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705602	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705612	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705618	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705619	0.82[EUR][1000 genomes]
rs72944877	1.00[ASN][1000 genomes]
rs72946427	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72947091	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951137	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951161	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755696	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817226	1.00[ASN][1000 genomes]
rs817227	1.00[ASN][1000 genomes]
rs817234	1.00[ASN][1000 genomes]
rs846784	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846790	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846796	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs861752	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390724	1.00[ASN][1000 genomes]
rs9498487	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	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
8	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
rs705609	ASCC3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101294600-101328600	Weak transcription	Spleen	Spleen
2	chr6:101297000-101327200	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:101297000-101328200	Weak transcription	Ovary	ovary
4	chr6:101300200-101328400	Weak transcription	Esophagus	oesophagus
5	chr6:101300200-101328400	Weak transcription	Lung	lung
6	chr6:101302600-101327800	Weak transcription	Stomach Mucosa	stomach
7	chr6:101304400-101327800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:101305000-101327800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:101311600-101327800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:101311800-101328200	Weak transcription	Aorta	Aorta
11	chr6:101311800-101328400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:101311800-101328400	Weak transcription	Left Ventricle	heart
13	chr6:101313000-101327200	Weak transcription	Fetal Intestine Large	intestine
14	chr6:101314800-101326800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:101315200-101327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:101315600-101327200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:101315800-101327200	Weak transcription	Adipose Nuclei	Adipose
18	chr6:101315800-101327200	Weak transcription	Placenta	Placenta
19	chr6:101315800-101327800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:101316000-101327000	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:101316000-101327400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:101316200-101327000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:101316400-101326800	Weak transcription	Primary T cells from cord blood	blood
24	chr6:101316400-101327200	Weak transcription	Fetal Thymus	thymus
25	chr6:101316400-101327200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:101316600-101327800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:101318800-101327600	Weak transcription	Fetal Lung	lung
28	chr6:101319600-101328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:101320800-101327600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:101320800-101328200	Weak transcription	Fetal Stomach	stomach
31	chr6:101321000-101327200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:101321400-101327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:101321800-101327800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:101322000-101327600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:101322000-101327800	Weak transcription	Primary B cells from cord blood	blood
36	chr6:101322000-101328200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:101322200-101327200	Weak transcription	Fetal Intestine Small	intestine
38	chr6:101323400-101327000	Enhancers	HepG2	liver
39	chr6:101323600-101327000	Active TSS	GM12878-XiMat	blood
40	chr6:101324000-101327600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:101324000-101327800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:101324600-101327200	Weak transcription	Liver	Liver
43	chr6:101324800-101327800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr6:101325400-101327000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:101325400-101327400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr6:101325400-101327400	Enhancers	HMEC	breast
47	chr6:101325400-101327400	Enhancers	HSMM	muscle
48	chr6:101325400-101327600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:101325400-101328200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:101325600-101326800	Enhancers	K562	blood

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