Variant report

Variant	rs130269
Chromosome Location	chr22:33201654-33201655
allele	C/T
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	chr22:33200030..33201710-chr22:33205528..33207191,2	MCF-7	breast:
5	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11089594	0.83[AMR][1000 genomes]
rs130270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130274	0.86[ASN][1000 genomes]
rs130275	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs130276	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs130287	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130525	0.83[AMR][1000 genomes]
rs130530	0.83[AMR][1000 genomes]
rs130532	0.83[AMR][1000 genomes]
rs130533	0.83[AMR][1000 genomes]
rs130538	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130548	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs130551	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs130559	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs130560	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs135149	0.83[AMR][1000 genomes]
rs1962223	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4821095	0.83[AMR][1000 genomes]
rs4821096	0.83[AMR][1000 genomes]
rs5998622	0.83[AMR][1000 genomes]
rs80269	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs929013	0.83[AMR][1000 genomes]
rs929014	0.83[AMR][1000 genomes]
rs9606991	0.82[AMR][1000 genomes]
rs9606992	0.82[AMR][1000 genomes]
rs9606993	0.83[AMR][1000 genomes]
rs9609622	0.83[AMR][1000 genomes]
rs9609623	0.80[AMR][1000 genomes]
rs9609631	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33198600-33202600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:33199200-33201800	Enhancers	Fetal Brain Male	brain
3	chr22:33199600-33201800	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr22:33199800-33201800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:33199800-33201800	Transcr. at gene 5' and 3'	Osteobl	bone
6	chr22:33199800-33202200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:33199800-33202600	Active TSS	Ovary	ovary
8	chr22:33199800-33206000	Weak transcription	Pancreas	Pancrea
9	chr22:33200000-33204000	Weak transcription	Brain Angular Gyrus	brain
10	chr22:33200400-33202600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:33200400-33216200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:33200600-33203800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:33200600-33215200	Weak transcription	NHEK	skin
14	chr22:33200800-33202800	Enhancers	Fetal Heart	heart
15	chr22:33200800-33203200	Enhancers	Spleen	Spleen
16	chr22:33200800-33203600	Weak transcription	Liver	Liver
17	chr22:33200800-33204200	Weak transcription	Small Intestine	intestine
18	chr22:33201000-33201800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:33201000-33201800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:33201000-33201800	Enhancers	Brain Hippocampus Middle	brain
21	chr22:33201000-33202000	Weak transcription	Brain Anterior Caudate	brain
22	chr22:33201000-33202200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:33201000-33202600	Flanking Active TSS	Right Atrium	heart
24	chr22:33201000-33203200	Enhancers	Brain Cingulate Gyrus	brain
25	chr22:33201000-33204000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:33201000-33204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:33201000-33204000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:33201000-33204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:33201000-33205800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:33201000-33207200	Enhancers	Fetal Intestine Large	intestine
31	chr22:33201000-33210400	Weak transcription	HSMMtube	muscle
32	chr22:33201000-33214400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
34	chr22:33201200-33202000	Weak transcription	Esophagus	oesophagus
35	chr22:33201200-33202200	Weak transcription	Lung	lung
36	chr22:33201200-33202600	Genic enhancers	Fetal Muscle Leg	muscle
37	chr22:33201200-33202600	Enhancers	Placenta	Placenta
38	chr22:33201200-33204200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:33201200-33206200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:33201200-33206400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:33201200-33211800	Weak transcription	Gastric	stomach
42	chr22:33201200-33222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:33201400-33201800	Active TSS	NHDF-Ad	bronchial
44	chr22:33201400-33202000	Weak transcription	Fetal Intestine Small	intestine
45	chr22:33201400-33202200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr22:33201400-33202200	Genic enhancers	HepG2	liver
47	chr22:33201400-33202400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr22:33201400-33202400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
49	chr22:33201400-33202400	Genic enhancers	HMEC	breast
50	chr22:33201400-33202600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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