Variant report

Variant	rs73045231
Chromosome Location	chr19:41766978-41766979
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41766822-41772154	IMR90	lung:	n/a	n/a
2	IRF1	chr19:41766631-41767387	K562	blood:	n/a	n/a
3	POLR2A	chr19:41766581-41772173	U87	brain:	n/a	n/a
4	GATA3	chr19:41766906-41767055	SH-SY5Y	brain:	n/a	n/a
5	CTCF	chr19:41766421-41772168	A549	lung:	n/a	chr19:41768327-41768345 chr19:41769790-41769803 chr19:41768328-41768344
6	POLR2A	chr19:41766843-41767200	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr19:41766803-41767341	U87	brain:	n/a	n/a
8	POLR2A	chr19:41766405-41767321	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr19:41766581-41772179	U87	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41753148..41755079-chr19:41765835..41768228,2	MCF-7	breast:
2	chr19:41766631..41773289-chr19:41812153..41817614,9	K562	blood:
3	chr19:41766963..41771332-chr19:41813075..41817628,7	K562	blood:
4	chr19:41710998..41712626-chr19:41765390..41767317,2	K562	blood:
5	chr19:41723453..41725082-chr19:41766152..41768338,2	MCF-7	breast:
6	chr19:41765404..41767204-chr19:41769914..41772808,2	MCF-7	breast:
7	chr19:41766877..41771286-chr19:41856641..41860631,6	K562	blood:
8	chr19:41709961..41710916-chr19:41766604..41767721,3	K562	blood:
9	chr19:41729266..41732729-chr19:41766701..41770009,7	K562	blood:

No data

Variant related genes	Relation type
HNRNPUL1	TF binding region
ENSG00000105329	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000167601	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000142039	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12459929	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs15052	1.00[ASN][1000 genomes]
rs17251589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803447	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55841050	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254331	1.00[ASN][1000 genomes]
rs73043273	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045269	1.00[ASN][1000 genomes]
rs8109440	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41732600-41768800	Weak transcription	Small Intestine	intestine
2	chr19:41733200-41767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:41733200-41767200	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr19:41736000-41767200	Strong transcription	Osteobl	bone
5	chr19:41736000-41767400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:41736400-41767800	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr19:41736600-41767000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:41736600-41767200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:41736600-41767400	Strong transcription	HSMM	muscle
10	chr19:41736600-41767800	Weak transcription	Brain Angular Gyrus	brain
11	chr19:41738800-41767400	Weak transcription	Fetal Brain Male	brain
12	chr19:41739400-41767400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:41742600-41767600	Strong transcription	A549	lung
14	chr19:41745800-41767200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:41753400-41767000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:41753800-41767400	Strong transcription	NHDF-Ad	bronchial
17	chr19:41754200-41767200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:41754600-41767200	Weak transcription	Brain Germinal Matrix	brain
19	chr19:41755000-41767400	Weak transcription	Fetal Thymus	thymus
20	chr19:41755000-41767800	Weak transcription	Hela-S3	cervix
21	chr19:41755000-41768000	Weak transcription	Gastric	stomach
22	chr19:41757400-41767800	Weak transcription	Right Atrium	heart
23	chr19:41758000-41767400	Strong transcription	NHLF	lung
24	chr19:41758200-41767400	Strong transcription	NH-A	brain
25	chr19:41758600-41768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:41760000-41767400	Weak transcription	Pancreas	Pancrea
27	chr19:41760200-41767400	Weak transcription	Colonic Mucosa	Colon
28	chr19:41760800-41767600	Weak transcription	HepG2	liver
29	chr19:41764000-41767400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:41764000-41767400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:41764000-41767800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:41764200-41767400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:41764200-41767800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr19:41764200-41767800	Weak transcription	Brain Substantia Nigra	brain
35	chr19:41764200-41768400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr19:41764400-41769000	Weak transcription	Spleen	Spleen
37	chr19:41765000-41767400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:41765000-41767600	Weak transcription	Liver	Liver
39	chr19:41765200-41767000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:41765200-41767400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:41765200-41767800	Weak transcription	Fetal Kidney	kidney
42	chr19:41765400-41767400	Weak transcription	Fetal Brain Female	brain
43	chr19:41765400-41767400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:41765400-41767400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:41765400-41767800	Weak transcription	Brain Anterior Caudate	brain
46	chr19:41765800-41767200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:41765800-41767400	Weak transcription	Colon Smooth Muscle	Colon
48	chr19:41765800-41767400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:41765800-41767400	Weak transcription	HUVEC	blood vessel
50	chr19:41765800-41767600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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