Variant report

Variant	rs130270
Chromosome Location	chr22:33202415-33202416
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	chr22:32922025..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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11089594	0.83[AMR][1000 genomes]
rs130269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130274	0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs130275	0.93[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs130276	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs130287	0.93[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130525	0.83[AMR][1000 genomes]
rs130530	0.84[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes]
rs130532	0.83[AMR][1000 genomes]
rs130533	0.83[AMR][1000 genomes]
rs130538	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130548	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs130551	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs130559	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs130560	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs135149	0.83[AMR][1000 genomes]
rs1962223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4821095	0.83[AMR][1000 genomes]
rs4821096	0.86[CHB][hapmap];0.83[AMR][1000 genomes]
rs5998622	0.83[AMR][1000 genomes]
rs715572	0.84[JPT][hapmap]
rs762887	0.86[CHB][hapmap]
rs80269	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs929013	0.86[CHB][hapmap];0.83[AMR][1000 genomes]
rs929014	0.87[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes]
rs9606991	0.82[AMR][1000 genomes]
rs9606992	0.82[AMR][1000 genomes]
rs9606993	0.87[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes]
rs9609622	0.83[AMR][1000 genomes]
rs9609623	0.80[AMR][1000 genomes]
rs9609631	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

No data

Chromatin state (count:86 , 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	chr22:33199800-33202600	Active TSS	Ovary	ovary
3	chr22:33199800-33206000	Weak transcription	Pancreas	Pancrea
4	chr22:33200000-33204000	Weak transcription	Brain Angular Gyrus	brain
5	chr22:33200400-33202600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:33200400-33216200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:33200600-33203800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr22:33200600-33215200	Weak transcription	NHEK	skin
9	chr22:33200800-33202800	Enhancers	Fetal Heart	heart
10	chr22:33200800-33203200	Enhancers	Spleen	Spleen
11	chr22:33200800-33203600	Weak transcription	Liver	Liver
12	chr22:33200800-33204200	Weak transcription	Small Intestine	intestine
13	chr22:33201000-33202600	Flanking Active TSS	Right Atrium	heart
14	chr22:33201000-33203200	Enhancers	Brain Cingulate Gyrus	brain
15	chr22:33201000-33204000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:33201000-33204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:33201000-33204000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr22:33201000-33204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:33201000-33205800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:33201000-33207200	Enhancers	Fetal Intestine Large	intestine
21	chr22:33201000-33210400	Weak transcription	HSMMtube	muscle
22	chr22:33201000-33214400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
24	chr22:33201200-33202600	Genic enhancers	Fetal Muscle Leg	muscle
25	chr22:33201200-33202600	Enhancers	Placenta	Placenta
26	chr22:33201200-33204200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr22:33201200-33206200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:33201200-33206400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:33201200-33211800	Weak transcription	Gastric	stomach
30	chr22:33201200-33222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:33201400-33202600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:33201400-33203000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr22:33201400-33204000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:33201400-33204200	Weak transcription	Fetal Brain Female	brain
35	chr22:33201400-33204200	Weak transcription	Psoas Muscle	Psoas
36	chr22:33201400-33204200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr22:33201400-33204800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:33201400-33205400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:33201400-33205800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:33201400-33208800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr22:33201600-33202600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:33201600-33202600	Enhancers	Brain Substantia Nigra	brain
43	chr22:33201600-33202600	Genic enhancers	Right Ventricle	heart
44	chr22:33201600-33204000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:33201600-33204000	Weak transcription	Fetal Lung	lung
46	chr22:33201600-33204000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr22:33201600-33204000	Weak transcription	HSMM	muscle
48	chr22:33201600-33204000	Weak transcription	NHLF	lung
49	chr22:33201600-33204200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:33201600-33204200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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