Variant report

Variant	rs12166075
Chromosome Location	chr22:31342757-31342758
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31342707-31342762	HepG2	liver:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31340457..31342974-chr22:31344141..31346217,2	K562	blood:
2	chr22:31342475..31345914-chr22:31476419..31478627,3	K562	blood:
3	chr22:31342529..31345379-chr22:31554367..31556150,2	MCF-7	breast:
4	chr22:31336667..31339057-chr22:31340918..31343107,2	MCF-7	breast:
5	chr22:31341681..31345619-chr22:31363146..31367064,6	MCF-7	breast:
6	chr22:31342107..31345018-chr22:31480560..31483316,2	K562	blood:
7	chr22:31342475..31344481-chr22:31476769..31479191,2	K562	blood:
8	chr22:31342449..31344677-chr22:31350437..31352173,2	K562	blood:
9	chr22:31340439..31342971-chr22:31364239..31366878,2	MCF-7	breast:
10	chr22:31341646..31347156-chr22:31356738..31361617,7	K562	blood:
11	chr22:31341919..31343827-chr22:31360898..31363809,2	K562	blood:
12	chr22:31340062..31346727-chr22:31479237..31484130,8	MCF-7	breast:
13	chr22:31339986..31349104-chr22:31474916..31484317,23	MCF-7	breast:
14	chr22:31342107..31344742-chr22:31481093..31483316,2	K562	blood:
15	chr22:31330005..31331646-chr22:31341515..31343222,2	K562	blood:
16	chr22:31342101..31344498-chr22:31347434..31350344,2	MCF-7	breast:
17	chr22:31327002..31329909-chr22:31342219..31343763,2	MCF-7	breast:

No data

Variant related genes	Relation type
MORC2	TF binding region
ENSG00000273387	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000264141	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11089483	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166445	1.00[EUR][1000 genomes]
rs12166521	1.00[EUR][1000 genomes]
rs12166797	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12167130	1.00[EUR][1000 genomes]
rs12168605	1.00[EUR][1000 genomes]
rs12168997	1.00[EUR][1000 genomes]
rs12169136	1.00[EUR][1000 genomes]
rs12170790	1.00[EUR][1000 genomes]
rs13433649	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16989109	1.00[EUR][1000 genomes]
rs16989230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2232171	1.00[EUR][1000 genomes]
rs2232180	1.00[EUR][1000 genomes]
rs28428739	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35239241	1.00[EUR][1000 genomes]
rs56686418	1.00[EUR][1000 genomes]
rs5994374	1.00[EUR][1000 genomes]
rs5997890	1.00[EUR][1000 genomes]
rs7284605	1.00[EUR][1000 genomes]
rs9619138	1.00[EUR][1000 genomes]
rs9619139	1.00[EUR][1000 genomes]
rs9619140	1.00[EUR][1000 genomes]
rs9619152	1.00[EUR][1000 genomes]
rs9619154	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621106	1.00[EUR][1000 genomes]
rs9621111	1.00[EUR][1000 genomes]
rs9621121	1.00[EUR][1000 genomes]
rs9621129	1.00[EUR][1000 genomes]
rs9621131	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621146	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621151	1.00[AMR][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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 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	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31319000-31343600	Strong transcription	Fetal Stomach	stomach
3	chr22:31319200-31344000	Strong transcription	Fetal Intestine Small	intestine
4	chr22:31319200-31345200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:31319200-31347400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:31319200-31350800	Strong transcription	Brain Germinal Matrix	brain
7	chr22:31319200-31351800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:31319600-31343200	Strong transcription	Placenta	Placenta
9	chr22:31319600-31345200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:31319800-31343000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31319800-31343200	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr22:31319800-31353200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:31319800-31355800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:31320000-31344000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr22:31320000-31354600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:31320000-31355600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:31320200-31343000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr22:31320200-31353400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:31320200-31354800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr22:31320200-31355600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr22:31320200-31355800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:31320400-31345200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:31320600-31343600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr22:31320600-31347400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:31320600-31347800	Strong transcription	Liver	Liver
26	chr22:31320600-31354400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:31320600-31354400	Strong transcription	HepG2	liver
28	chr22:31320800-31343400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:31320800-31343600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr22:31320800-31344400	Strong transcription	HSMM	muscle
31	chr22:31320800-31344400	Strong transcription	Osteobl	bone
32	chr22:31320800-31347000	Strong transcription	NH-A	brain
33	chr22:31320800-31352600	Strong transcription	Fetal Thymus	thymus
34	chr22:31321000-31342800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:31321000-31352800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr22:31321000-31353400	Strong transcription	Fetal Intestine Large	intestine
37	chr22:31321200-31350000	Strong transcription	Fetal Lung	lung
38	chr22:31321400-31343000	Strong transcription	Rectal Smooth Muscle	rectum
39	chr22:31321400-31343800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr22:31322000-31343000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr22:31323000-31343600	Strong transcription	Colon Smooth Muscle	Colon
42	chr22:31324800-31360400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr22:31325600-31351600	Strong transcription	Fetal Brain Female	brain
44	chr22:31325800-31342800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:31326200-31343800	Strong transcription	Gastric	stomach
46	chr22:31326200-31346000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr22:31326200-31347400	Strong transcription	NHLF	lung
48	chr22:31326200-31349600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr22:31326200-31351800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr22:31326800-31347600	Strong transcription	Fetal Kidney	kidney

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