Variant report

Variant	rs5749512
Chromosome Location	chr22:33200399-33200400
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
ENSG00000227813	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000185666	Chromatin interaction

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

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

rs_ID	r²[population]
rs11703156	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs11703906	1.00[JPT][hapmap]
rs11704023	1.00[JPT][hapmap]
rs2013564	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749524	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs5754250	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5754266	1.00[JPT][hapmap]
rs5754280	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5754281	1.00[JPT][hapmap]
rs5754288	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62232904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713685	0.88[CEU][hapmap]
rs7289098	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737088	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33197200-33200800	Active TSS	Aorta	Aorta
2	chr22:33197200-33200800	Active TSS	Spleen	Spleen
3	chr22:33197200-33201200	Active TSS	Esophagus	oesophagus
4	chr22:33197400-33200400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:33197400-33200400	Active TSS	Brain Hippocampus Middle	brain
6	chr22:33197400-33200600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr22:33197400-33201000	Active TSS	Right Atrium	heart
8	chr22:33197400-33201400	Active TSS	Psoas Muscle	Psoas
9	chr22:33197600-33201200	Active TSS	Gastric	stomach
10	chr22:33198400-33200400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr22:33198600-33200400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:33198600-33200400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
13	chr22:33198600-33200800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:33198600-33200800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:33198600-33201200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:33198600-33201400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:33198600-33202600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:33198800-33200600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr22:33198800-33200800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr22:33199000-33200400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr22:33199000-33201000	Active TSS	Brain Substantia Nigra	brain
22	chr22:33199000-33201400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:33199200-33200400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr22:33199200-33200400	Active TSS	Fetal Brain Female	brain
25	chr22:33199200-33200400	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr22:33199200-33200400	Enhancers	Fetal Thymus	thymus
27	chr22:33199200-33201000	Flanking Active TSS	NH-A	brain
28	chr22:33199200-33201200	Flanking Active TSS	HepG2	liver
29	chr22:33199200-33201200	Flanking Active TSS	HMEC	breast
30	chr22:33199200-33201400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr22:33199200-33201800	Enhancers	Fetal Brain Male	brain
32	chr22:33199400-33200400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr22:33199400-33200600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr22:33199400-33200600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:33199400-33201000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr22:33199400-33201200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:33199400-33201200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr22:33199400-33201600	Enhancers	Primary hematopoietic stem cells	blood
39	chr22:33199400-33201600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
40	chr22:33199600-33200400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:33199600-33200600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr22:33199600-33200600	Flanking Active TSS	Right Ventricle	heart
43	chr22:33199600-33200600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr22:33199600-33201000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr22:33199600-33201000	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr22:33199600-33201000	Flanking Active TSS	HSMM	muscle
47	chr22:33199600-33201200	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr22:33199600-33201800	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr22:33199800-33200400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr22:33199800-33200400	Enhancers	Hela-S3	cervix

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