Variant report

Variant	rs58341807
Chromosome Location	chr19:40778398-40778399
allele	C/T
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	TBL1XR1	chr19:40778273-40778942	K562	blood:	n/a	n/a
2	TBL1XR1	chr19:40778314-40779078	K562	blood:	n/a	n/a
3	ARID3A	chr19:40778392-40779106	K562	blood:	n/a	n/a
4	MAX	chr19:40778239-40779043	K562	blood:	n/a	chr19:40778286-40778295 chr19:40778287-40778294
5	MAX	chr19:40778048-40778531	K562	blood:	n/a	chr19:40778286-40778295 chr19:40778287-40778294
6	CEBPB	chr19:40778379-40779154	K562	blood:	n/a	n/a
7	POLR2A	chr19:40778292-40778881	K562	blood:	n/a	n/a
8	TRIM28	chr19:40778301-40779201	K562	blood:	n/a	n/a
9	POLR2A	chr19:40778074-40778473	K562	blood:	n/a	n/a
10	MYC	chr19:40778104-40779038	K562	blood:	n/a	chr19:40778286-40778295 chr19:40778287-40778294
11	POLR2A	chr19:40778150-40778659	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr19:40778313-40778669	HepG2	liver:	n/a	n/a
13	NR2F2	chr19:40778225-40779200	K562	blood:	n/a	n/a
14	TEAD4	chr19:40778361-40779096	K562	blood:	n/a	n/a
15	TEAD4	chr19:40778088-40779191	K562	blood:	n/a	n/a
16	CBX3	chr19:40778246-40779098	K562	blood:	n/a	n/a
17	POLR2A	chr19:40778078-40779164	K562	blood:	n/a	n/a
18	MAX	chr19:40778153-40778578	K562	blood:	n/a	chr19:40778286-40778295 chr19:40778287-40778294
19	POLR2A	chr19:40777778-40778598	GM12878	blood:	n/a	n/a
20	CHD2	chr19:40778196-40778944	K562	blood:	n/a	n/a
21	CUX1	chr19:40778154-40779040	K562	blood:	n/a	n/a
22	POLR2A	chr19:40778293-40778543	K562	blood:	n/a	n/a
23	POLR2A	chr19:40777969-40778651	GM12878	blood:	n/a	n/a
24	CEBPB	chr19:40778270-40779334	K562	blood:	n/a	n/a
25	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
26	BHLHE40	chr19:40778193-40779131	K562	blood:	n/a	n/a
27	PML	chr19:40778264-40779142	K562	blood:	n/a	n/a
28	MAFK	chr19:40778294-40778926	K562	blood:	n/a	n/a
29	TAL1	chr19:40778321-40779157	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40776468..40779839-chr19:40784717..40787633,5	MCF-7	breast:
2	chr19:40773358..40775863-chr19:40778274..40780379,3	K562	blood:
3	chr19:40769216..40771181-chr19:40778063..40779733,2	K562	blood:
4	chr19:40776878..40778500-chr19:40970454..40972142,2	K562	blood:

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000090013	Chromatin interaction
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1972545	1.00[AMR][1000 genomes]
rs56743160	1.00[AMR][1000 genomes]
rs58675277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61140926	1.00[AMR][1000 genomes]
rs61208274	1.00[AMR][1000 genomes]
rs7249252	1.00[AMR][1000 genomes]
rs7256297	1.00[AMR][1000 genomes]
rs73547690	1.00[AMR][1000 genomes]
rs73549813	1.00[AMR][1000 genomes]
rs73553624	1.00[AMR][1000 genomes]
rs73553657	1.00[AMR][1000 genomes]
rs73555546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555594	1.00[AMR][1000 genomes]
rs73557743	1.00[AMR][1000 genomes]
rs73557755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73559610	1.00[AMR][1000 genomes]
rs73559649	1.00[AMR][1000 genomes]
rs8107448	1.00[AMR][1000 genomes]
rs8109544	1.00[AMR][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	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
9	nsv1057052	chr19:40776128-40789766	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40759800-40780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40762000-40779800	Weak transcription	Stomach Mucosa	stomach
3	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
4	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
5	chr19:40767600-40779600	Strong transcription	Fetal Stomach	stomach
6	chr19:40767800-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:40768200-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:40769000-40779600	Strong transcription	Fetal Intestine Small	intestine
9	chr19:40769600-40783600	Weak transcription	Fetal Kidney	kidney
10	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
14	chr19:40770400-40784000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:40771000-40780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:40771000-40780800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:40771000-40783600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:40771400-40779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
20	chr19:40771600-40780400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:40771600-40786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr19:40773600-40779600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:40773800-40780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:40774400-40778400	Strong transcription	NHEK	skin
25	chr19:40774400-40778800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr19:40774600-40778400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:40774600-40780000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:40774600-40780000	Weak transcription	NHDF-Ad	bronchial
29	chr19:40774800-40779600	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:40774800-40780400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr19:40775600-40778600	Weak transcription	HepG2	liver
32	chr19:40775800-40778400	Genic enhancers	Fetal Muscle Leg	muscle
33	chr19:40776000-40779800	Weak transcription	Brain Germinal Matrix	brain
34	chr19:40776000-40787400	Weak transcription	A549	lung
35	chr19:40776200-40778800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:40776200-40780400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:40776400-40778400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:40776400-40778600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr19:40776400-40779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:40776400-40779800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:40776400-40780400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr19:40776400-40785000	Weak transcription	NHLF	lung
43	chr19:40776600-40779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:40776600-40779600	Weak transcription	Ovary	ovary
45	chr19:40776600-40780000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:40776600-40780400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:40776600-40783200	Weak transcription	Fetal Intestine Large	intestine
48	chr19:40776600-40783800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:40776600-40785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:40776800-40780400	Weak transcription	Rectal Mucosa Donor 29	rectum

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