Variant report

Variant	rs72607895
Chromosome Location	chr3:194995244-194995245
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	FOXA1	chr3:194994934-194995807	HepG2	liver:	n/a	n/a
2	FOXA2	chr3:194994831-194995965	HepG2	liver:	n/a	n/a
3	TBL1XR1	chr3:194995213-194995249	K562	blood:	n/a	n/a
4	POLR2A	chr3:194993689-194996866	K562	blood:	n/a	n/a
5	ZNF384	chr3:194994968-194995375	K562	blood:	n/a	chr3:194995069-194995077
6	TAL1	chr3:194994988-194995300	K562	blood:	n/a	n/a
7	FOXA1	chr3:194995178-194995760	HepG2	liver:	n/a	n/a
8	EP300	chr3:194995098-194995327	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194992899..194995747-chr3:195244217..195245876,2	K562	blood:
2	chr3:194990271..194992764-chr3:194994105..194997544,4	K562	blood:

Variant related genes	Relation type
XXYLT1	TF binding region
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs12485302	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12485380	0.90[AMR][1000 genomes]
rs12485407	0.90[AMR][1000 genomes]
rs12485433	0.93[AMR][1000 genomes]
rs12485787	0.90[AMR][1000 genomes]
rs12486241	0.90[AMR][1000 genomes]
rs12486536	0.90[AMR][1000 genomes]
rs12486805	0.96[AMR][1000 genomes]
rs12487670	0.90[AMR][1000 genomes]
rs12487961	0.90[AMR][1000 genomes]
rs12488451	0.96[AMR][1000 genomes]
rs12488481	0.96[AMR][1000 genomes]
rs12488562	0.93[AMR][1000 genomes]
rs12488869	0.90[AMR][1000 genomes]
rs12488979	0.96[AMR][1000 genomes]
rs12489090	0.96[AMR][1000 genomes]
rs12489620	0.90[AMR][1000 genomes]
rs12489849	0.96[AMR][1000 genomes]
rs12490460	0.90[AMR][1000 genomes]
rs12490658	0.96[AMR][1000 genomes]
rs12491026	0.96[AMR][1000 genomes]
rs12491371	0.96[AMR][1000 genomes]
rs12491581	0.93[AMR][1000 genomes]
rs12491670	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12491736	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12491788	0.90[AMR][1000 genomes]
rs12491808	0.90[AMR][1000 genomes]
rs12491854	0.90[AMR][1000 genomes]
rs12492552	0.96[AMR][1000 genomes]
rs12492644	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12494306	0.83[AMR][1000 genomes]
rs12494564	0.90[AMR][1000 genomes]
rs12494759	0.96[AMR][1000 genomes]
rs12494773	0.96[AMR][1000 genomes]
rs12494820	0.93[AMR][1000 genomes]
rs12494883	0.90[AMR][1000 genomes]
rs12495657	0.96[AMR][1000 genomes]
rs12496202	0.93[AMR][1000 genomes]
rs12496204	0.96[AMR][1000 genomes]
rs12496885	0.90[AMR][1000 genomes]
rs12497178	0.90[AMR][1000 genomes]
rs12497478	0.96[AMR][1000 genomes]
rs12497671	0.90[AMR][1000 genomes]
rs12497677	0.90[AMR][1000 genomes]
rs1808074	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2029707	0.90[AMR][1000 genomes]
rs2050807	0.96[AMR][1000 genomes]
rs2050808	0.96[AMR][1000 genomes]
rs34643420	0.96[AMR][1000 genomes]
rs35419807	0.90[AMR][1000 genomes]
rs3773419	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3773420	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs41266981	0.90[AMR][1000 genomes]
rs41266999	0.96[AMR][1000 genomes]
rs41267003	0.96[AMR][1000 genomes]
rs56211708	0.93[AMR][1000 genomes]
rs60040536	0.93[AMR][1000 genomes]
rs6767801	0.93[AMR][1000 genomes]
rs6798243	0.86[AMR][1000 genomes]
rs72499627	0.90[AMR][1000 genomes]
rs72607893	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72607894	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72607896	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72607897	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607898	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607899	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607900	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607901	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72607902	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72611103	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72611104	0.92[ASN][1000 genomes]
rs72611105	0.86[ASN][1000 genomes]
rs755202	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7653179	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
7	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
8	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
12	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
13	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
14	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194992400-195009000	Weak transcription	Spleen	Spleen
2	chr3:194992600-195003600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:194992600-195003600	Weak transcription	Small Intestine	intestine
4	chr3:194992600-195008200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:194992600-195008800	Weak transcription	Lung	lung
6	chr3:194992600-195090000	Weak transcription	Aorta	Aorta
7	chr3:194992800-194996200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:194992800-194997200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:194992800-195003600	Weak transcription	Esophagus	oesophagus
10	chr3:194992800-195003600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:194992800-195003600	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:194992800-195003600	Weak transcription	Left Ventricle	heart
13	chr3:194992800-195003600	Weak transcription	Psoas Muscle	Psoas
14	chr3:194992800-195003600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:194992800-195004800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:194992800-195005400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:194992800-195008600	Weak transcription	Ovary	ovary
18	chr3:194992800-195039800	Weak transcription	Fetal Brain Male	brain
19	chr3:194992800-195039800	Weak transcription	Right Ventricle	heart
20	chr3:194993000-194995400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr3:194993000-194996200	Weak transcription	Primary B cells from cord blood	blood
22	chr3:194993000-194996400	Weak transcription	Fetal Thymus	thymus
23	chr3:194993000-194996800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:194993000-194997400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:194993000-194997400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr3:194993000-194997400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:194993000-194997400	Weak transcription	NH-A	brain
28	chr3:194993000-194997800	Weak transcription	Fetal Intestine Large	intestine
29	chr3:194993000-194997800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:194993000-194998000	Weak transcription	Fetal Lung	lung
31	chr3:194993000-194998400	Weak transcription	Thymus	Thymus
32	chr3:194993000-194998600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:194993000-194998800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:194993000-194999200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:194993000-194999200	Weak transcription	Placenta	Placenta
36	chr3:194993000-194999400	Weak transcription	Primary T cells from cord blood	blood
37	chr3:194993000-194999400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:194993000-194999400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:194993000-195001200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:194993000-195003000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:194993000-195003400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:194993000-195003400	Weak transcription	Adipose Nuclei	Adipose
43	chr3:194993000-195003600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:194993000-195003600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:194993000-195003600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr3:194993000-195003600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:194993000-195003600	Weak transcription	Fetal Intestine Small	intestine
48	chr3:194993000-195003600	Weak transcription	Fetal Stomach	stomach
49	chr3:194993000-195003600	Weak transcription	Gastric	stomach
50	chr3:194993000-195003600	Weak transcription	Rectal Mucosa Donor 31	rectum

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