Variant report

Variant	rs873143
Chromosome Location	chr19:40773318-40773319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:40773280-40773430	BE2_C	brain:	n/a	n/a
2	CTCF	chr19:40773280-40773430	K562	blood:	n/a	n/a
3	CTCF	chr19:40773220-40773370	A549	lung:	n/a	n/a
4	CTCF	chr19:40773291-40773417	K562	blood:	n/a	n/a
5	CTCF	chr19:40773234-40773452	K562	blood:	n/a	n/a
6	CTCF	chr19:40773171-40773537	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr19:40773220-40773370	MCF-7	breast:	n/a	n/a
8	CTCF	chr19:40773148-40773490	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr19:40773280-40773430	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr19:40773288-40773454	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr19:40773163-40773519	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:40773240-40773390	Hela-S3	cervix:	n/a	n/a
13	ZNF143	chr19:40773303-40773725	K562	blood:	n/a	n/a
14	CTCF	chr19:40773260-40773410	HEK293	kidney:	n/a	n/a
15	CTCF	chr19:40773280-40773430	HCPEpiC	choroid plexus:	n/a	n/a
16	POLR2A	chr19:40772829-40774190	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:40773154-40773332	K562	blood:	n/a	n/a
18	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
19	RCOR1	chr19:40773276-40773550	K562	blood:	n/a	n/a
20	POLR2A	chr19:40772970-40773902	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:40773098-40773844	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40772625..40774748-chr19:40789587..40791342,2	MCF-7	breast:
2	chr19:40766133..40769095-chr19:40773189..40775084,2	K562	blood:
3	chr19:40772355..40774714-chr19:40778588..40781448,2	MCF-7	breast:

No data

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000205041	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11665880	0.81[EUR][1000 genomes]
rs11666690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667443	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668006	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11668520	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11669006	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669332	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670323	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11670860	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11670912	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11671439	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17846842	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2356230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28746190	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35090721	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36058450	0.84[ASN][1000 genomes]
rs3730052	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3730055	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3730262	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs41275746	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41275748	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41275750	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45497695	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56672337	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58094119	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59058760	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59106111	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6508937	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66623822	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67587726	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7245751	0.82[EUR][1000 genomes]
rs7247515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7252506	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933218	0.84[ASN][1000 genomes]
rs73933225	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933232	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933237	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933238	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933240	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105478	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs874269	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1063993	chr19:40763787-40781360	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1059884	chr19:40763839-40781360	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40759800-40775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:40759800-40780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr19:40762000-40779800	Weak transcription	Stomach Mucosa	stomach
4	chr19:40762800-40777600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
6	chr19:40763200-40774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:40763600-40777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:40763800-40777600	Weak transcription	Hela-S3	cervix
9	chr19:40763800-40777600	Weak transcription	HMEC	breast
10	chr19:40765400-40777800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
12	chr19:40766800-40776600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:40767000-40776200	Strong transcription	Primary T cells from cord blood	blood
14	chr19:40767400-40774800	Strong transcription	Thymus	Thymus
15	chr19:40767600-40774800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:40767600-40779600	Strong transcription	Fetal Stomach	stomach
17	chr19:40767800-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:40768000-40774400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:40768200-40774600	Strong transcription	Fetal Intestine Large	intestine
20	chr19:40768200-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:40769000-40776600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr19:40769000-40778200	Weak transcription	HSMM	muscle
23	chr19:40769000-40779600	Strong transcription	Fetal Intestine Small	intestine
24	chr19:40769400-40777400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:40769600-40776200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:40769600-40783600	Weak transcription	Fetal Kidney	kidney
27	chr19:40769800-40774200	Weak transcription	NHDF-Ad	bronchial
28	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:40770200-40775000	Enhancers	Brain Angular Gyrus	brain
31	chr19:40770200-40776200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
34	chr19:40770400-40784000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:40770600-40774800	Enhancers	Brain Substantia Nigra	brain
36	chr19:40770600-40775000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:40771000-40773400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:40771000-40773400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:40771000-40774000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:40771000-40777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:40771000-40780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:40771000-40780800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr19:40771000-40783600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:40771200-40773600	Enhancers	Fetal Heart	heart
45	chr19:40771200-40773600	Weak transcription	GM12878-XiMat	blood
46	chr19:40771200-40774200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:40771200-40774600	Enhancers	Psoas Muscle	Psoas
48	chr19:40771200-40774800	Enhancers	Right Atrium	heart
49	chr19:40771200-40775000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr19:40771200-40775600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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