Variant report

Variant	rs2240183
Chromosome Location	chr22:31362139-31362140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31360341-31367453	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr22:31361590-31362340	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:31360500-31362460	K562	blood:	n/a	n/a
4	POLR2A	chr22:31361041-31362487	MCF10A-Er-Src	breast:	n/a	n/a
5	SETDB1	chr22:31360480-31362517	U2OS	brain:	n/a	n/a
6	POLR2A	chr22:31361916-31363134	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31350661..31352197-chr22:31360542..31362275,2	K562	blood:
2	chr22:31354060..31357711-chr22:31360112..31362776,4	K562	blood:
3	chr22:31341919..31343827-chr22:31360898..31363809,2	K562	blood:
4	chr22:31346728..31348525-chr22:31359939..31362603,2	MCF-7	breast:
5	chr22:31360789..31362753-chr22:31489810..31492663,2	MCF-7	breast:
6	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
7	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
8	chr22:31358926..31361303-chr22:31361613..31363630,2	K562	blood:
9	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
10	chr22:31360377..31363179-chr22:31451258..31453241,3	K562	blood:
11	chr22:31356394..31358670-chr22:31361446..31363174,2	MCF-7	breast:
12	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:

No data

Variant related genes	Relation type
TUG1	TF binding region
ENSG00000273387	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1003480	0.86[YRI][hapmap]
rs1005252	0.97[YRI][hapmap]
rs10854601	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11089481	0.81[AMR][1000 genomes]
rs11089484	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11703597	0.83[EUR][1000 genomes]
rs11705565	0.80[AMR][1000 genomes]
rs12166294	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12168307	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1807686	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016654	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2019171	0.81[EUR][1000 genomes]
rs2072132	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2074578	0.93[YRI][hapmap]
rs2079221	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240175	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240176	0.83[EUR][1000 genomes]
rs2240177	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240179	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240180	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240182	1.00[YRI][hapmap]
rs2285918	0.97[YRI][hapmap]
rs3747151	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788426	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3804084	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3804085	1.00[CEU][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3827330	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3948685	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820916	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820921	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820923	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4820925	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820926	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749185	0.96[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749186	0.93[YRI][hapmap]
rs5749189	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5749192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749199	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5749201	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753369	0.93[YRI][hapmap]
rs5753378	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753379	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753383	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5753386	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753389	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753394	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753396	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753398	0.97[YRI][hapmap]
rs5753407	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753408	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753410	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997802	0.82[EUR][1000 genomes]
rs5997807	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997830	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5997838	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997846	0.96[YRI][hapmap]
rs6518726	0.81[EUR][1000 genomes]
rs6518729	0.84[EUR][1000 genomes]
rs722683	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs722684	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7284767	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7289831	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7290078	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7291199	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7291361	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7291471	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs737924	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737926	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737927	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs739896	1.00[CEU][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8004	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8135974	0.96[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8139350	0.81[EUR][1000 genomes]
rs9609183	0.95[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9609185	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9609188	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2240183	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs2240183	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2240183	MORC2-AS1	cis	Thyroid	GTEx
rs2240183	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs2240183	MORC2-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31344600-31363600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:31345400-31364000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:31345600-31364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:31346000-31364400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr22:31346200-31364200	Weak transcription	Brain Substantia Nigra	brain
7	chr22:31347200-31363000	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:31347200-31364400	Weak transcription	Esophagus	oesophagus
9	chr22:31347400-31362400	Weak transcription	Gastric	stomach
10	chr22:31347400-31362400	Weak transcription	Lung	lung
11	chr22:31347400-31363000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:31347400-31363800	Weak transcription	NHLF	lung
13	chr22:31347600-31363000	Weak transcription	Spleen	Spleen
14	chr22:31347600-31363400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:31347600-31363400	Weak transcription	HMEC	breast
16	chr22:31347600-31364000	Weak transcription	Fetal Kidney	kidney
17	chr22:31348600-31362800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:31348800-31363000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:31348800-31363800	Weak transcription	Brain Angular Gyrus	brain
20	chr22:31348800-31364000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr22:31349000-31363000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:31349000-31364400	Weak transcription	Aorta	Aorta
23	chr22:31349200-31363600	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:31349200-31364200	Weak transcription	Thymus	Thymus
25	chr22:31349400-31364400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:31349800-31363800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:31349800-31363800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:31349800-31363800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:31349800-31363800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr22:31349800-31364200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:31350400-31364200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:31350600-31363000	Weak transcription	Psoas Muscle	Psoas
33	chr22:31350800-31363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:31350800-31363800	Weak transcription	Brain Anterior Caudate	brain
35	chr22:31351000-31363600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:31351000-31364400	Weak transcription	Ovary	ovary
37	chr22:31351400-31362200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:31351800-31363800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:31351800-31364000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr22:31352400-31362200	Weak transcription	Liver	Liver
41	chr22:31352400-31363600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr22:31352600-31362400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:31352600-31362400	Weak transcription	Left Ventricle	heart
44	chr22:31352600-31363400	Weak transcription	NHEK	skin
45	chr22:31352600-31364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:31352800-31363800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:31352800-31364000	Weak transcription	Adipose Nuclei	Adipose
48	chr22:31352800-31364000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr22:31353200-31362200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:31353200-31362800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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