Variant report

Variant	rs62232904
Chromosome Location	chr22:33201286-33201287
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	chr22:33200030..33201710-chr22:33205528..33207191,2	MCF-7	breast:
5	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2013564	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749524	0.85[EUR][1000 genomes]
rs5754250	0.82[ASN][1000 genomes]
rs5754280	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5754288	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289098	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737088	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33197400-33201400	Active TSS	Psoas Muscle	Psoas
2	chr22:33198600-33201400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:33198600-33202600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:33199000-33201400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:33199200-33201400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr22:33199200-33201800	Enhancers	Fetal Brain Male	brain
7	chr22:33199400-33201600	Enhancers	Primary hematopoietic stem cells	blood
8	chr22:33199400-33201600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
9	chr22:33199600-33201800	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr22:33199800-33201400	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
11	chr22:33199800-33201600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:33199800-33201600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:33199800-33201800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:33199800-33201800	Transcr. at gene 5' and 3'	Osteobl	bone
15	chr22:33199800-33202200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr22:33199800-33202600	Active TSS	Ovary	ovary
17	chr22:33199800-33206000	Weak transcription	Pancreas	Pancrea
18	chr22:33200000-33201400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr22:33200000-33204000	Weak transcription	Brain Angular Gyrus	brain
20	chr22:33200200-33201600	Transcr. at gene 5' and 3'	Left Ventricle	heart
21	chr22:33200400-33201400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:33200400-33201400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr22:33200400-33201400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:33200400-33201600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr22:33200400-33202600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:33200400-33216200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:33200600-33203800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr22:33200600-33215200	Weak transcription	NHEK	skin
29	chr22:33200800-33201400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:33200800-33201400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr22:33200800-33201400	Enhancers	Fetal Intestine Small	intestine
32	chr22:33200800-33201400	Weak transcription	Fetal Kidney	kidney
33	chr22:33200800-33202800	Enhancers	Fetal Heart	heart
34	chr22:33200800-33203200	Enhancers	Spleen	Spleen
35	chr22:33200800-33203600	Weak transcription	Liver	Liver
36	chr22:33200800-33204200	Weak transcription	Small Intestine	intestine
37	chr22:33201000-33201400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr22:33201000-33201400	Bivalent/Poised TSS	Colonic Mucosa	Colon
39	chr22:33201000-33201400	Enhancers	Fetal Brain Female	brain
40	chr22:33201000-33201400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
41	chr22:33201000-33201400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr22:33201000-33201400	Enhancers	NHDF-Ad	bronchial
43	chr22:33201000-33201600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:33201000-33201600	Weak transcription	Brain Substantia Nigra	brain
45	chr22:33201000-33201600	Enhancers	Fetal Lung	lung
46	chr22:33201000-33201600	Transcr. at gene 5' and 3'	Right Ventricle	heart
47	chr22:33201000-33201600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr22:33201000-33201600	Enhancers	HSMM	muscle
49	chr22:33201000-33201600	Enhancers	NH-A	brain
50	chr22:33201000-33201800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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