Variant report

Variant	rs6119118
Chromosome Location	chr20:29634946-29634947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr20:29634561-29635221	K562	blood:	n/a	n/a
2	POLR2A	chr20:29634472-29635219	K562	blood:	n/a	n/a
3	NR2C2	chr20:29634421-29635217	GM12878	blood:	n/a	n/a
4	HCFC1	chr20:29634557-29634964	K562	blood:	n/a	n/a
5	RFX5	chr20:29634562-29635007	HepG2	liver:	n/a	n/a
6	ZBTB33	chr20:29633835-29636155	HepG2	liver:	n/a	n/a
7	USF2	chr20:29634546-29634991	HepG2	liver:	n/a	n/a
8	TBL1XR1	chr20:29634585-29634989	K562	blood:	n/a	n/a
9	ATF3	chr20:29634301-29635008	K562	blood:	n/a	n/a
10	SIX5	chr20:29634326-29635501	K562	blood:	n/a	n/a
11	ELK1	chr20:29634724-29634999	Hela-S3	cervix:	n/a	n/a
12	IRF4	chr20:29633908-29635172	GM12878	blood:	n/a	n/a
13	CTCF	chr20:29634920-29635070	HFF-Myc	foreskin:	n/a	n/a
14	PAX5	chr20:29634338-29635230	GM12878	blood:	n/a	n/a
15	ZBTB33	chr20:29634371-29635689	GM12878	blood:	n/a	n/a
16	ZNF143	chr20:29634405-29634995	K562	blood:	n/a	n/a
17	RXRA	chr20:29633874-29636001	HepG2	liver:	n/a	n/a
18	SMC3	chr20:29634637-29634993	GM12878	blood:	n/a	n/a
19	EP300	chr20:29633909-29635782	GM12878	blood:	n/a	chr20:29634428-29634441
20	PAX5	chr20:29634084-29636133	GM12878	blood:	n/a	n/a
21	MAX	chr20:29634677-29635081	GM12878	blood:	n/a	n/a
22	FOSL2	chr20:29634001-29635886	HepG2	liver:	n/a	chr20:29634828-29634837
23	IRF3	chr20:29634389-29634985	GM12878	blood:	n/a	n/a
24	POU2F2	chr20:29633936-29636128	GM12878	blood:	n/a	n/a
25	POLR2A	chr20:29633843-29635382	K562	blood:	n/a	n/a
26	ATF1	chr20:29634000-29635084	K562	blood:	n/a	n/a
27	POLR2A	chr20:29634178-29635769	GM12878	blood:	n/a	n/a
28	ZC3H11A	chr20:29634589-29635006	K562	blood:	n/a	n/a
29	BRCA1	chr20:29634403-29635017	HepG2	liver:	n/a	n/a
30	HDAC2	chr20:29634348-29635196	K562	blood:	n/a	chr20:29634970-29634978
31	MAX	chr20:29634584-29635218	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:29633490..29636802-chr9:68424473..68428627,9	MCF-7	breast:
2	chr20:29634674..29636233-chr4:190890902..190893775,2	K562	blood:
3	chr20:29634644..29639248-chr4:190892116..190896171,7	MCF-7	breast:
4	chr20:29634371..29640092-chr4:190891314..190895900,7	MCF-7	breast:
5	chr20:29634837..29636605-chr9:68424534..68426260,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221319	TF binding region
ENSG00000249462	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34988612	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6057191	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6057373	0.84[ASN][1000 genomes]
rs6057378	0.87[ASN][1000 genomes]
rs6057406	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6087167	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6087264	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6118923	0.88[ASN][1000 genomes]
rs6119084	0.95[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6119089	0.89[AFR][1000 genomes]
rs6141218	0.92[ASN][1000 genomes]
rs8117830	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758518	chr20:29419570-29653908	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2758791	chr20:29419570-29653908	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428028	chr20:29419570-29653908	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv428376	chr20:29419570-29653908	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1062766	chr20:29420340-29635454	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv833950	chr20:29472154-29638425	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1058387	chr20:29479828-29651199	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1067193	chr20:29525410-29651199	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv11674	chr20:29528011-29653880	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv965870	chr20:29570138-29652376	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3359503	chr20:29579591-29639989	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3336027	chr20:29579691-29639889	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3337149	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3343795	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv3380005	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3441285	chr20:29579691-29639889	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	esv15335	chr20:29580700-29653880	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv585870	chr20:29603773-29648195	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv585871	chr20:29612406-29648195	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv585872	chr20:29612406-29648263	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv585873	chr20:29616742-29651821	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv821487	chr20:29629343-29652652	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv828711	chr20:29629343-29652652	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv585874	chr20:29633277-29651821	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29622600-29639000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr20:29625600-29639000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr20:29625800-29639000	ZNF genes & repeats	HepG2	liver
4	chr20:29626600-29640200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:29628000-29639000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr20:29628400-29638800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr20:29628400-29639000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr20:29628600-29637200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
9	chr20:29630600-29638800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
10	chr20:29630600-29639000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr20:29631800-29639000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr20:29632400-29639000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:29632600-29635000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
14	chr20:29632600-29636800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
15	chr20:29632600-29638800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:29633000-29638800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
17	chr20:29633200-29639000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:29633200-29639000	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr20:29633200-29639000	ZNF genes & repeats	Dnd41	blood
20	chr20:29633800-29636800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr20:29633800-29639000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr20:29634000-29635000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr20:29634000-29635200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr20:29634000-29636400	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr20:29634000-29638800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr20:29634000-29638800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr20:29634000-29638800	ZNF genes & repeats	NHDF-Ad	bronchial
28	chr20:29634000-29639000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr20:29634200-29635000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr20:29634200-29635000	ZNF genes & repeats	Brain Anterior Caudate	brain
31	chr20:29634200-29635000	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr20:29634200-29635000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
33	chr20:29634200-29635200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:29634200-29635200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr20:29634200-29635200	ZNF genes & repeats	GM12878-XiMat	blood
36	chr20:29634200-29636400	ZNF genes & repeats	Brain Angular Gyrus	brain
37	chr20:29634200-29636400	ZNF genes & repeats	Fetal Heart	heart
38	chr20:29634200-29636400	ZNF genes & repeats	Fetal Kidney	kidney
39	chr20:29634200-29636400	ZNF genes & repeats	NH-A	brain
40	chr20:29634200-29636600	ZNF genes & repeats	NHLF	lung
41	chr20:29634200-29636800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr20:29634200-29636800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
43	chr20:29634200-29636800	ZNF genes & repeats	Liver	Liver
44	chr20:29634200-29638800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr20:29634200-29638800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr20:29634200-29638800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr20:29634200-29638800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:29634200-29638800	ZNF genes & repeats	Fetal Brain Male	brain
49	chr20:29634200-29639000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr20:29634200-29639000	ZNF genes & repeats	Primary T cells from cord blood	blood

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