Variant report

Variant	rs61995503
Chromosome Location	chr14:20774560-20774561
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	CTCF	chr14:20773555-20774783	A549	lung:	n/a	chr14:20774164-20774180 chr14:20774158-20774179
2	POLR2A	chr14:20773491-20775031	HepG2	liver:	n/a	n/a
3	CTCF	chr14:20774420-20774570	GM12872	blood:	n/a	n/a
4	MXI1	chr14:20773171-20774875	SK-N-SH	brain:	n/a	chr14:20773913-20773928
5	POLR2A	chr14:20774386-20775671	K562	blood:	n/a	n/a
6	MXI1	chr14:20773149-20774750	IMR90	lung:	n/a	chr14:20773913-20773928
7	CTCF	chr14:20773545-20774738	SK-N-SH	brain:	n/a	chr14:20774164-20774180 chr14:20774158-20774179
8	REST	chr14:20773563-20774575	H1-neurons	neurons:	n/a	n/a
9	HCFC1	chr14:20773087-20774706	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:20772687..20775435-chr14:20922031..20924000,2	MCF-7	breast:
2	chr14:20774180..20774689-chr14:20795248..20796097,2	MCF-7	breast:
3	chr14:20772552..20774812-chr14:20810086..20811786,2	MCF-7	breast:

Variant related genes	Relation type
TTC5	TF binding region
ENSG00000100823	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000259001	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002245	0.81[AMR][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093883	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093894	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093926	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45622542	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58959974	1.00[ASN][1000 genomes]
rs60052229	1.00[ASN][1000 genomes]
rs61993950	1.00[AFR][1000 genomes]
rs61993951	1.00[AFR][1000 genomes]
rs61993952	1.00[AFR][1000 genomes]
rs61993953	1.00[AFR][1000 genomes]
rs61993956	1.00[AFR][1000 genomes]
rs61993957	1.00[AFR][1000 genomes]
rs61993958	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61993959	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995510	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	1.00[AMR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995546	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72671246	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[ASN][1000 genomes]
rs8010392	1.00[AFR][1000 genomes];1.00[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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers 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	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
7	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
9	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20774200-20774600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr14:20774200-20777000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:20774200-20778800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:20774200-20778800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:20774200-20779400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:20774200-20779400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:20774200-20779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:20774200-20779400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:20774200-20779400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:20774200-20779400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:20774200-20779400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:20774200-20779400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:20774200-20779400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:20774200-20779400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:20774200-20779400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:20774200-20779400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:20774200-20779400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:20774200-20779400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:20774200-20779400	Weak transcription	Fetal Stomach	stomach
20	chr14:20774200-20779400	Weak transcription	Left Ventricle	heart
21	chr14:20774200-20779400	Weak transcription	Lung	lung
22	chr14:20774200-20779400	Weak transcription	HSMMtube	muscle
23	chr14:20774200-20779400	Weak transcription	Osteobl	bone
24	chr14:20774200-20779600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:20774200-20779600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:20774200-20779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:20774200-20779600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:20774200-20779600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:20774200-20779600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:20774200-20779600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:20774200-20779600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:20774200-20779600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:20774200-20779600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:20774200-20779600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr14:20774200-20779600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr14:20774200-20779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:20774200-20779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:20774200-20779600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:20774200-20779600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:20774200-20779600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:20774200-20779600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:20774200-20779600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:20774200-20779600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:20774200-20779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:20774200-20779600	Weak transcription	Liver	Liver
46	chr14:20774200-20779600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:20774200-20779600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:20774200-20779600	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:20774200-20779600	Weak transcription	Fetal Thymus	thymus
50	chr14:20774200-20779600	Weak transcription	Ovary	ovary

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