Variant report

Variant	rs56319160
Chromosome Location	chr9:104162581-104162582
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:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:104162495-104162762	K562	blood:	n/a	n/a
2	POLR2A	chr9:104160044-104162634	GM12878	blood:	n/a	n/a
3	RCOR1	chr9:104162562-104162822	K562	blood:	n/a	n/a
4	EGR1	chr9:104162498-104162737	K562	blood:	n/a	n/a
5	NR3C1	chr9:104162334-104162809	A549	lung:	n/a	n/a
6	POLR2A	chr9:104162395-104162673	HUVEC	blood vessel:	n/a	n/a
7	NR3C1	chr9:104162412-104162717	A549	lung:	n/a	n/a
8	NR3C1	chr9:104162388-104162774	A549	lung:	n/a	n/a
9	POLR2A	chr9:104159413-104162727	MCF10A-Er-Src	breast:	n/a	n/a
10	NR3C1	chr9:104162401-104162735	A549	lung:	n/a	n/a
11	POLR2A	chr9:104162509-104162813	HUVEC	blood vessel:	n/a	n/a
12	NR3C1	chr9:104162318-104162748	A549	lung:	n/a	n/a
13	WRNIP1	chr9:104160219-104162724	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:104159969-104162658	GM12891	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104159029..104163428-chr9:104247830..104250587,4	K562	blood:
2	chr9:104156777..104159647-chr9:104161503..104163892,2	K562	blood:

No data

Variant related genes	Relation type
MRPL50	TF binding region
ENSG00000165152	Chromatin interaction

rs_ID	r²[population]
rs12003943	1.00[AMR][1000 genomes]
rs16920305	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5007868	1.00[AMR][1000 genomes]
rs55729046	1.00[AMR][1000 genomes]
rs6479051	1.00[AMR][1000 genomes]
rs73657937	1.00[AMR][1000 genomes]
rs73657940	1.00[AMR][1000 genomes]
rs73657948	1.00[AMR][1000 genomes]
rs73657950	1.00[AMR][1000 genomes]
rs73657952	1.00[AMR][1000 genomes]
rs73657955	1.00[AMR][1000 genomes]
rs7864833	1.00[AMR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104159400-104162600	Active TSS	Psoas Muscle	Psoas
2	chr9:104159800-104162600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:104160000-104162600	Active TSS	Lung	lung
4	chr9:104160000-104162600	Active TSS	Pancreas	Pancrea
5	chr9:104160200-104162600	Active TSS	Colonic Mucosa	Colon
6	chr9:104161400-104162800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr9:104161600-104162600	Flanking Active TSS	Liver	Liver
8	chr9:104161600-104162600	Flanking Active TSS	Brain Substantia Nigra	brain
9	chr9:104161600-104162600	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr9:104161600-104162800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr9:104161600-104162800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr9:104161800-104162600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr9:104161800-104162600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:104161800-104162600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr9:104161800-104162600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr9:104161800-104162600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:104161800-104162600	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr9:104161800-104162600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr9:104161800-104162600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr9:104161800-104162600	Flanking Active TSS	HMEC	breast
21	chr9:104161800-104162800	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr9:104161800-104162800	Flanking Active TSS	HUVEC	blood vessel
23	chr9:104161800-104162800	Flanking Active TSS	NH-A	brain
24	chr9:104161800-104163000	Flanking Active TSS	Fetal Brain Male	brain
25	chr9:104161800-104163000	Flanking Active TSS	Fetal Brain Female	brain
26	chr9:104161800-104163000	Flanking Active TSS	Fetal Heart	heart
27	chr9:104162000-104162600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr9:104162000-104162800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:104162000-104163000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
30	chr9:104162000-104163000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr9:104162000-104163200	Transcr. at gene 5' and 3'	Fetal Lung	lung
32	chr9:104162000-104163200	Enhancers	Spleen	Spleen
33	chr9:104162000-104163600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
34	chr9:104162000-104164200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:104162000-104164600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr9:104162000-104169600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:104162200-104162600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:104162200-104162600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:104162200-104162600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr9:104162200-104162600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:104162200-104162600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr9:104162200-104162600	Flanking Active TSS	Fetal Kidney	kidney
43	chr9:104162200-104162600	Enhancers	Fetal Thymus	thymus
44	chr9:104162200-104162600	Active TSS	Gastric	stomach
45	chr9:104162200-104162600	Transcr. at gene 5' and 3'	HSMM	muscle
46	chr9:104162200-104162800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:104162200-104162800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:104162200-104162800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:104162200-104162800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr9:104162200-104162800	Genic enhancers	Primary T cells fromperipheralblood	blood

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