Variant report

Variant	rs15052
Chromosome Location	chr19:41813375-41813376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41811701-41817543	SK-N-MC	brain:	n/a	n/a
2	CTCF	chr19:41811702-41817527	A549	lung:	n/a	chr19:41814589-41814607 chr19:41814590-41814606 chr19:41814584-41814605 chr19:41814591-41814604 chr19:41814591-41814604 chr19:41813852-41813873 chr19:41813850-41813868 chr19:41814601-41814614
3	POLR2A	chr19:41813221-41816825	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:41809524-41818013	K562	blood:	n/a	n/a
5	POLR2A	chr19:41813354-41817333	K562	blood:	n/a	n/a
6	POLR2A	chr19:41812504-41817492	U87	brain:	n/a	n/a
7	POLR2A	chr19:41813202-41816983	A549	lung:	n/a	n/a
8	POLR2A	chr19:41813044-41816956	K562	blood:	n/a	n/a
9	POLR2A	chr19:41812949-41815614	K562	blood:	n/a	n/a
10	POLR2A	chr19:41813358-41817263	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr19:41813044-41813620	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr19:41813181-41816806	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:41813132-41816946	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:41813165-41813500	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41799355..41806261-chr19:41812914..41817863,9	MCF-7	breast:
2	chr19:41808201..41810426-chr19:41812838..41816052,5	K562	blood:
3	chr19:41766963..41771332-chr19:41813075..41817628,7	K562	blood:
4	chr19:41711943..41714623-chr19:41813301..41815470,3	MCF-7	breast:
5	chr19:41804854..41807401-chr19:41811549..41813471,2	K562	blood:
6	chr19:41811198..41813629-chr19:41830281..41833026,2	K562	blood:
7	chr19:41813131..41816938-chr19:41856231..41860417,4	MCF-7	breast:
8	chr19:41767589..41772847-chr19:41812402..41817981,15	MCF-7	breast:
9	chr19:41766631..41773289-chr19:41812153..41817614,9	K562	blood:
10	chr19:41801720..41806546-chr19:41809215..41814185,5	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HNRNPUL1	hsa-miR-34a-5p	chr19:41813366-41813387

Variant related genes	Relation type
CCDC97	TF binding region
ENSG00000255730	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000105323	Chromatin interaction
HNRNPUL1	miRNA target site

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12459929	1.00[ASN][1000 genomes]
rs12459996	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12461203	1.00[ASN][1000 genomes]
rs17251589	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4803447	1.00[ASN][1000 genomes]
rs55841050	1.00[ASN][1000 genomes]
rs55994820	1.00[ASN][1000 genomes]
rs56254331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73043273	1.00[ASN][1000 genomes]
rs73045223	1.00[ASN][1000 genomes]
rs73045226	1.00[ASN][1000 genomes]
rs73045231	1.00[ASN][1000 genomes]
rs73045269	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109440	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv17637	chr19:41770228-41815282	Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41773200-41814400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41773800-41814200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:41773800-41814200	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:41773800-41814200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:41774000-41814200	Strong transcription	Fetal Brain Female	brain
6	chr19:41780200-41815800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:41783800-41814400	Strong transcription	Brain Germinal Matrix	brain
8	chr19:41788600-41815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:41794200-41813800	Strong transcription	K562	blood
10	chr19:41795200-41814000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:41795400-41813800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:41795400-41814200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:41795600-41813800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr19:41795600-41813800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:41795600-41814200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:41801600-41814600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:41802600-41814200	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr19:41803200-41814400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:41803200-41814400	Strong transcription	HMEC	breast
20	chr19:41804200-41813800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:41804800-41814200	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr19:41805000-41814200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:41805200-41814200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:41805200-41814400	Strong transcription	Gastric	stomach
25	chr19:41805400-41814200	Strong transcription	Fetal Intestine Large	intestine
26	chr19:41805600-41814200	Strong transcription	Fetal Intestine Small	intestine
27	chr19:41806200-41813400	Strong transcription	Brain Cingulate Gyrus	brain
28	chr19:41806200-41813400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:41806200-41813800	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr19:41806200-41813800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:41806200-41814000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:41806200-41814000	Strong transcription	Brain Angular Gyrus	brain
33	chr19:41806200-41814200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:41806200-41814200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:41806200-41814200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr19:41806200-41814200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:41806200-41814200	Strong transcription	Fetal Stomach	stomach
38	chr19:41806200-41814200	Strong transcription	NH-A	brain
39	chr19:41806200-41814400	Strong transcription	Fetal Lung	lung
40	chr19:41806200-41814400	Strong transcription	Osteobl	bone
41	chr19:41806200-41814600	Strong transcription	HSMM	muscle
42	chr19:41806400-41813600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:41806400-41813600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:41806400-41813800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:41806400-41814000	Strong transcription	HSMMtube	muscle
46	chr19:41806600-41814000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:41806800-41814000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr19:41806800-41814000	Weak transcription	Right Atrium	heart
49	chr19:41807200-41813400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr19:41807600-41813800	Genic enhancers	Dnd41	blood

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