Variant report

Variant	rs62123462
Chromosome Location	chr19:38687076-38687077
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:1)
LncRNA
region (count:0)
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	ESRRA	chr19:38686779-38687772	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:38687075-38687255	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:38686868-38687350	A549	lung:	n/a	n/a
4	GABPA	chr19:38686903-38687293	K562	blood:	n/a	n/a
5	POLR2A	chr19:38686960-38687184	A549	lung:	n/a	n/a
6	NR2F2	chr19:38686774-38687549	K562	blood:	n/a	n/a
7	ZNF263	chr19:38686827-38687321	HEK293-T-REx	kidney:	n/a	chr19:38687134-38687155
8	NR2F2	chr19:38686707-38687615	MCF-7	breast:	n/a	n/a
9	MYC	chr19:38687075-38687251	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:38686907-38687410	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:38686938-38687235	H1-hESC	embryonic stem cell:	n/a	n/a
12	SRF	chr19:38686937-38687142	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:38686909-38687277	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:38686983-38687328	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:38686737-38687169	GM12878	blood:	n/a	n/a
16	CBX3	chr19:38686981-38687392	K562	blood:	n/a	n/a
17	POLR2A	chr19:38687038-38687159	MCF-7	breast:	n/a	n/a
18	POLR2A	chr19:38686773-38687329	GM12878	blood:	n/a	n/a
19	ESRRA	chr19:38686889-38687372	HepG2	liver:	n/a	n/a
20	NR2F2	chr19:38686682-38687564	K562	blood:	n/a	n/a
21	POLR2A	chr19:38686921-38687290	A549	lung:	n/a	n/a
22	POLR2A	chr19:38686932-38687231	A549	lung:	n/a	n/a
23	POLR2A	chr19:38686865-38687355	GM12891	blood:	n/a	n/a
24	POLR2A	chr19:38686732-38687444	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:38686558-38687542	A549	lung:	n/a	n/a
26	POLR2A	chr19:38686892-38687320	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38686001..38690151-chr19:38692873..38697096,4	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL663P	TF binding region
ENSG00000268499	TF binding region
ENSG00000105738	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10414253	0.84[EUR][1000 genomes]
rs2569413	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs332841	0.89[EUR][1000 genomes]
rs332854	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38653600-38696400	Weak transcription	Small Intestine	intestine
2	chr19:38657600-38696200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr19:38658400-38694000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:38664600-38688600	Weak transcription	NH-A	brain
5	chr19:38664600-38699800	Weak transcription	Brain Substantia Nigra	brain
6	chr19:38671200-38691800	Weak transcription	Brain Angular Gyrus	brain
7	chr19:38671800-38692400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr19:38671800-38695600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:38672200-38692800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr19:38672600-38699800	Weak transcription	HUVEC	blood vessel
11	chr19:38672800-38693400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:38673800-38688800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:38674400-38696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:38674600-38691600	Weak transcription	Psoas Muscle	Psoas
15	chr19:38674600-38696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:38674600-38698600	Strong transcription	Fetal Intestine Small	intestine
17	chr19:38674800-38689000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:38674800-38689000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:38674800-38692200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:38674800-38692400	Weak transcription	Fetal Brain Male	brain
21	chr19:38674800-38696200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:38674800-38696800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:38674800-38697000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:38674800-38699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:38674800-38699000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:38674800-38700400	Weak transcription	Fetal Kidney	kidney
27	chr19:38675000-38692800	Weak transcription	Fetal Lung	lung
28	chr19:38675400-38700200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:38675600-38691800	Weak transcription	Placenta	Placenta
30	chr19:38675600-38696800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:38675800-38689000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:38675800-38689000	Weak transcription	Fetal Brain Female	brain
33	chr19:38675800-38694600	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:38676000-38699800	Weak transcription	Right Atrium	heart
35	chr19:38676400-38693600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr19:38676600-38688800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr19:38676800-38688800	Weak transcription	Primary T cells from cord blood	blood
38	chr19:38676800-38689000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:38676800-38689400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr19:38676800-38692000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:38676800-38692200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr19:38676800-38698200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:38679400-38699400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr19:38679600-38697800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr19:38679800-38698400	Strong transcription	Fetal Intestine Large	intestine
46	chr19:38679800-38698600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr19:38680000-38687400	Strong transcription	Primary B cells from cord blood	blood
48	chr19:38680000-38699400	Weak transcription	Dnd41	blood
49	chr19:38680600-38697800	Strong transcription	Fetal Stomach	stomach
50	chr19:38680600-38698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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