Variant report

Variant	rs6050432
Chromosome Location	chr20:25184028-25184029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr20:25183374-25184174	U2OS	brain:	n/a	n/a
2	BHLHE40	chr20:25183968-25184085	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25183731..25186136-chr20:25238166..25239977,2	MCF-7	breast:
2	chr20:25182714..25185445-chr20:25216908..25218844,2	MCF-7	breast:
3	chr20:25180384..25184358-chr20:25185233..25189796,6	K562	blood:
4	chr20:25176013..25179017-chr20:25181894..25184717,4	K562	blood:
5	chr20:25183254..25185690-chr20:25227240..25230153,3	MCF-7	breast:
6	chr20:25183250..25185573-chr20:25216058..25218999,2	K562	blood:

No data

Variant related genes	Relation type
ENTPD6	TF binding region
ENSG00000100994	Chromatin interaction
ENSG00000197586	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1007707	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1007708	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11087505	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11698185	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473695	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037057	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037059	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6050422	0.83[AMR][1000 genomes]
rs6050425	0.93[ASN][1000 genomes]
rs6050426	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6050427	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6050429	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050431	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6050439	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6050442	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6050445	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083776	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083779	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6138536	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138537	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv3340	chr20:25160137-25190540	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6050432	ABHD12	cis	multi-tissue	Pritchard
rs6050432	PYGB	cis	multi-tissue	Pritchard
rs6050432	ABHD12	Cis_1M	lymphoblastoid	RTeQTL
rs6050432	GINS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25177600-25190400	Weak transcription	HUVEC	blood vessel
2	chr20:25177800-25184400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:25177800-25185200	Weak transcription	Placenta	Placenta
4	chr20:25177800-25191600	Weak transcription	NH-A	brain
5	chr20:25178000-25192600	Weak transcription	Fetal Lung	lung
6	chr20:25178200-25184200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr20:25178200-25185400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:25178200-25185800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr20:25178200-25187800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr20:25178200-25192000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr20:25178200-25192000	Weak transcription	Aorta	Aorta
12	chr20:25178400-25184400	Weak transcription	Osteobl	bone
13	chr20:25178400-25184800	Weak transcription	Stomach Mucosa	stomach
14	chr20:25178400-25190400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr20:25178400-25203800	Weak transcription	Small Intestine	intestine
16	chr20:25178400-25203800	Weak transcription	Hela-S3	cervix
17	chr20:25178600-25185200	Weak transcription	Fetal Intestine Large	intestine
18	chr20:25178600-25185800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr20:25178600-25185800	Weak transcription	Spleen	Spleen
20	chr20:25178600-25186400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr20:25178600-25187400	Weak transcription	Liver	Liver
22	chr20:25178600-25190400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:25178600-25190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr20:25178600-25195600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr20:25178600-25200400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr20:25178600-25212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr20:25178800-25184200	Weak transcription	Brain Substantia Nigra	brain
28	chr20:25178800-25187600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:25179800-25185200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr20:25179800-25185600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr20:25179800-25185600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr20:25179800-25190600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr20:25180000-25184400	Weak transcription	Pancreas	Pancrea
34	chr20:25180000-25184600	Weak transcription	Brain Hippocampus Middle	brain
35	chr20:25180000-25185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:25180000-25185200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr20:25180000-25185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr20:25180000-25185200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr20:25180000-25185200	Weak transcription	Fetal Muscle Leg	muscle
40	chr20:25180000-25185200	Weak transcription	Fetal Stomach	stomach
41	chr20:25180000-25185200	Weak transcription	Right Atrium	heart
42	chr20:25180000-25185600	Weak transcription	Fetal Intestine Small	intestine
43	chr20:25180000-25187400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr20:25180000-25191800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr20:25180000-25192200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr20:25180000-25207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr20:25180200-25184600	Weak transcription	Dnd41	blood
48	chr20:25180200-25185200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr20:25180200-25185200	Weak transcription	Fetal Thymus	thymus
50	chr20:25180200-25185200	Weak transcription	Right Ventricle	heart

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