Variant report

Variant	rs142011793
Chromosome Location	chr19:40781205-40781206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr19:40781014-40781439	K562	blood:	n/a	n/a
2	RCOR1	chr19:40780639-40781390	K562	blood:	n/a	n/a
3	POLR2A	chr19:40780467-40781332	K562	blood:	n/a	n/a
4	MTA3	chr19:40780376-40781541	GM12878	blood:	n/a	n/a
5	CHD2	chr19:40780572-40781350	GM12878	blood:	n/a	n/a
6	MAX	chr19:40781058-40781554	K562	blood:	n/a	n/a
7	MAZ	chr19:40780448-40781275	GM12878	blood:	n/a	n/a
8	MAX	chr19:40781028-40781291	GM12878	blood:	n/a	n/a
9	EBF1	chr19:40780597-40781402	GM12878	blood:	n/a	chr19:40781096-40781107
10	MAX	chr19:40780434-40781571	K562	blood:	n/a	n/a
11	MXI1	chr19:40780324-40781403	GM12878	blood:	n/a	n/a
12	BHLHE40	chr19:40781087-40781345	GM12878	blood:	n/a	n/a
13	ELF1	chr19:40781058-40781261	K562	blood:	n/a	n/a
14	EBF1	chr19:40780992-40781390	GM12878	blood:	n/a	chr19:40781096-40781107
15	ZBTB7A	chr19:40780955-40781239	K562	blood:	n/a	n/a
16	REST	chr19:40780259-40781533	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr19:40780774-40781427	GM12892	blood:	n/a	n/a
18	EBF1	chr19:40780943-40781372	GM12878	blood:	n/a	chr19:40781096-40781107
19	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr19:40780391-40781295	K562	blood:	n/a	n/a
21	POLR2A	chr19:40779523-40781545	GM12878	blood:	n/a	n/a
22	MAX	chr19:40780701-40781475	K562	blood:	n/a	n/a
23	RUNX3	chr19:40780952-40781613	GM12878	blood:	n/a	n/a
24	CBX3	chr19:40781122-40781516	K562	blood:	n/a	n/a
25	BHLHE40	chr19:40781026-40781347	K562	blood:	n/a	n/a
26	POLR2A	chr19:40780887-40781258	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:56708147..56710537-chr19:40780894..40783062,2	MCF-7	breast:
2	chr19:40780031..40782205-chr19:40949064..40951116,2	K562	blood:
3	chr19:40774152..40777118-chr19:40779107..40782198,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC118344.1-1	chr19:40780067-40781386	ENSG00000205041.1

No data

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	esv1797453	chr19:40780963-40786797	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	8 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	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
2	chr19:40769600-40783600	Weak transcription	Fetal Kidney	kidney
3	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
7	chr19:40770400-40784000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:40771000-40783600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
10	chr19:40771600-40786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:40776000-40787400	Weak transcription	A549	lung
12	chr19:40776400-40785000	Weak transcription	NHLF	lung
13	chr19:40776600-40783200	Weak transcription	Fetal Intestine Large	intestine
14	chr19:40776600-40783800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:40776600-40785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:40778000-40786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:40778400-40783600	Weak transcription	NHEK	skin
18	chr19:40778600-40784000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:40778600-40784400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:40778800-40784200	Weak transcription	HSMM	muscle
21	chr19:40778800-40784200	Weak transcription	Osteobl	bone
22	chr19:40778800-40785200	Weak transcription	HMEC	breast
23	chr19:40778800-40786200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:40778800-40787600	Weak transcription	Hela-S3	cervix
25	chr19:40779000-40781600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr19:40779000-40786800	Weak transcription	Dnd41	blood
27	chr19:40779200-40781400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr19:40779200-40781400	Enhancers	Fetal Muscle Trunk	muscle
29	chr19:40779200-40781600	Flanking Active TSS	K562	blood
30	chr19:40779200-40782200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr19:40779400-40781400	Enhancers	Brain Cingulate Gyrus	brain
32	chr19:40779400-40781400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr19:40779400-40782600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:40779400-40789600	Enhancers	Left Ventricle	heart
35	chr19:40779600-40781400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:40779600-40781400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:40779600-40781400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr19:40779600-40781400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr19:40779600-40781400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:40779600-40781400	Enhancers	Brain Hippocampus Middle	brain
41	chr19:40779600-40781400	Enhancers	Colonic Mucosa	Colon
42	chr19:40779600-40781400	Genic enhancers	Esophagus	oesophagus
43	chr19:40779600-40781400	Enhancers	Fetal Heart	heart
44	chr19:40779600-40781400	Genic enhancers	Fetal Intestine Small	intestine
45	chr19:40779600-40781400	Enhancers	Pancreas	Pancrea
46	chr19:40779600-40781400	Enhancers	Right Atrium	heart
47	chr19:40779600-40781600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:40779600-40781600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:40779600-40781600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:40779600-40781600	Enhancers	Brain Inferior Temporal Lobe	brain

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