Variant report

Variant	rs12484696
Chromosome Location	chr22:33203602-33203603
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32284948-32287956..22:33190123-33206921	K562	blood:
2	22:32846948-32860159..22:33190123-33206921	K562	blood:
3	chr22:33195652..33199571-chr22:33200330..33212129,15	MCF-7	breast:
4	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000184459	Chromatin interaction

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

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

rs_ID	r²[population]
rs10483165	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1074421	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11703138	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11704261	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1989438	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2013544	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58237391	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6518798	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7286761	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7287772	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7290713	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73158303	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs738990	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9621568	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33199800-33206000	Weak transcription	Pancreas	Pancrea
2	chr22:33200000-33204000	Weak transcription	Brain Angular Gyrus	brain
3	chr22:33200400-33216200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:33200600-33203800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr22:33200600-33215200	Weak transcription	NHEK	skin
6	chr22:33200800-33204200	Weak transcription	Small Intestine	intestine
7	chr22:33201000-33204000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:33201000-33204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:33201000-33204000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr22:33201000-33204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:33201000-33205800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:33201000-33207200	Enhancers	Fetal Intestine Large	intestine
13	chr22:33201000-33210400	Weak transcription	HSMMtube	muscle
14	chr22:33201000-33214400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
16	chr22:33201200-33204200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr22:33201200-33206200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:33201200-33206400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:33201200-33211800	Weak transcription	Gastric	stomach
20	chr22:33201200-33222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:33201400-33204000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr22:33201400-33204200	Weak transcription	Fetal Brain Female	brain
23	chr22:33201400-33204200	Weak transcription	Psoas Muscle	Psoas
24	chr22:33201400-33204200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr22:33201400-33204800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:33201400-33205400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:33201400-33205800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr22:33201400-33208800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr22:33201600-33204000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:33201600-33204000	Weak transcription	Fetal Lung	lung
31	chr22:33201600-33204000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr22:33201600-33204000	Weak transcription	HSMM	muscle
33	chr22:33201600-33204000	Weak transcription	NHLF	lung
34	chr22:33201600-33204200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:33201600-33204200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:33201600-33204200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr22:33201600-33206000	Weak transcription	Fetal Thymus	thymus
38	chr22:33201600-33206200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:33201600-33208000	Genic enhancers	Fetal Stomach	stomach
40	chr22:33201600-33226200	Weak transcription	NH-A	brain
41	chr22:33201800-33204000	Weak transcription	Brain Hippocampus Middle	brain
42	chr22:33201800-33206600	Genic enhancers	Osteobl	bone
43	chr22:33202000-33204000	Weak transcription	Colon Smooth Muscle	Colon
44	chr22:33202000-33220000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr22:33202200-33204000	Enhancers	HepG2	liver
46	chr22:33202600-33204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:33202600-33204000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr22:33202600-33204000	Weak transcription	Brain Anterior Caudate	brain
49	chr22:33202600-33204000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr22:33202600-33204000	Weak transcription	Placenta	Placenta

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