Variant report

Variant	rs2267180
Chromosome Location	chr22:33207697-33207698
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32264718-32278135..22:33206921-33208968	Hela-S3	cervix:
2	22:32764253-32784733..22:33206921-33208968	K562	blood:
3	22:32170492-32188129..22:33206921-33208968	Hela-S3	cervix:
4	22:32740683-32750950..22:33206921-33208968	K562	blood:
5	22:32920308-32927723..22:33206921-33208968	K562	blood:
6	22:32868055-32872511..22:33206921-33208968	Hela-S3	cervix:
7	chr22:33195652..33199571-chr22:33200330..33212129,15	MCF-7	breast:
8	22:33206921-33208968..22:33339333-33353583	K562	blood:
9	22:32012966-32043914..22:33206921-33208968	K562	blood:

Variant related genes	Relation type
ENSG00000205853	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2016293	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242071	0.88[ASN][1000 genomes]
rs242072	0.86[ASN][1000 genomes]
rs242075	0.87[ASN][1000 genomes]
rs242078	0.86[ASN][1000 genomes]
rs242085	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs242088	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs242089	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs738992	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33200400-33216200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:33200600-33215200	Weak transcription	NHEK	skin
3	chr22:33201000-33210400	Weak transcription	HSMMtube	muscle
4	chr22:33201000-33214400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
6	chr22:33201200-33211800	Weak transcription	Gastric	stomach
7	chr22:33201200-33222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:33201400-33208800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:33201600-33208000	Genic enhancers	Fetal Stomach	stomach
10	chr22:33201600-33226200	Weak transcription	NH-A	brain
11	chr22:33202000-33220000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:33202600-33211200	Weak transcription	Esophagus	oesophagus
13	chr22:33202600-33211800	Weak transcription	Brain Substantia Nigra	brain
14	chr22:33203200-33223600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:33204000-33208000	Genic enhancers	HepG2	liver
16	chr22:33204000-33208200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr22:33204000-33209800	Genic enhancers	Left Ventricle	heart
18	chr22:33204000-33209800	Genic enhancers	Right Ventricle	heart
19	chr22:33204200-33210000	Enhancers	Psoas Muscle	Psoas
20	chr22:33204600-33211800	Weak transcription	Colonic Mucosa	Colon
21	chr22:33204600-33220200	Weak transcription	Brain Hippocampus Middle	brain
22	chr22:33204800-33207800	Enhancers	Rectal Smooth Muscle	rectum
23	chr22:33204800-33227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:33205000-33210400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr22:33205000-33211000	Weak transcription	Ovary	ovary
26	chr22:33205000-33211000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr22:33205000-33211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:33205000-33211800	Weak transcription	HSMM	muscle
29	chr22:33205000-33214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:33205000-33216200	Weak transcription	NHLF	lung
31	chr22:33205200-33208600	Weak transcription	NHDF-Ad	bronchial
32	chr22:33205200-33214200	Enhancers	Colon Smooth Muscle	Colon
33	chr22:33205200-33219800	Weak transcription	Brain Angular Gyrus	brain
34	chr22:33205800-33209400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr22:33206000-33207800	Enhancers	Spleen	Spleen
36	chr22:33206000-33208600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:33206000-33214200	Weak transcription	Fetal Lung	lung
38	chr22:33206200-33208600	Enhancers	Stomach Smooth Muscle	stomach
39	chr22:33206200-33211200	Enhancers	Fetal Heart	heart
40	chr22:33206400-33220800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:33206600-33207800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:33206600-33208600	Weak transcription	HMEC	breast
43	chr22:33206600-33211800	Weak transcription	Placenta	Placenta
44	chr22:33206600-33213400	Weak transcription	Brain Anterior Caudate	brain
45	chr22:33206600-33214200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr22:33206600-33214200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr22:33206600-33219800	Strong transcription	Osteobl	bone
48	chr22:33206800-33208000	Enhancers	Right Atrium	heart
49	chr22:33206800-33209000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr22:33206800-33209800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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