Variant report

Variant	rs132541
Chromosome Location	chr22:29307158-29307159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29298276..29299796-chr22:29305846..29307998,2	MCF-7	breast:
2	chr22:29194488..29196341-chr22:29307007..29309890,3	MCF-7	breast:
3	chr22:29302324..29303849-chr22:29306626..29308399,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs132530	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs132535	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs132546	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs132547	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs132550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs132551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs132554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs132556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16986909	0.85[CHB][hapmap]
rs469988	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5762916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs5762924	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs5762935	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs713892	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs739197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29296800-29310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:29298400-29308400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:29298400-29310400	Enhancers	Fetal Intestine Large	intestine
4	chr22:29299000-29309200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr22:29300000-29307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:29300800-29307400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr22:29300800-29307600	Weak transcription	Small Intestine	intestine
8	chr22:29301800-29307200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:29302000-29307400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:29303800-29307600	Weak transcription	HSMMtube	muscle
11	chr22:29303800-29313200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:29304000-29307600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:29304400-29307200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:29304400-29307800	Weak transcription	HSMM	muscle
15	chr22:29304400-29309400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29304400-29312400	Weak transcription	Fetal Brain Female	brain
17	chr22:29304400-29312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29304600-29307200	Weak transcription	Fetal Kidney	kidney
19	chr22:29304600-29312600	Weak transcription	Fetal Brain Male	brain
20	chr22:29304600-29313000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:29304800-29307800	Weak transcription	Brain Germinal Matrix	brain
22	chr22:29304800-29313800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:29305000-29312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:29305000-29313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:29305400-29307200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:29305400-29307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:29305400-29307600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr22:29305400-29309600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:29305600-29307600	Weak transcription	NH-A	brain
30	chr22:29305600-29313600	Weak transcription	NHEK	skin
31	chr22:29305800-29307800	Weak transcription	K562	blood
32	chr22:29305800-29310000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:29306200-29307600	Enhancers	A549	lung
34	chr22:29306200-29308000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr22:29306200-29308400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr22:29306200-29308400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:29306400-29307200	Enhancers	Stomach Smooth Muscle	stomach
38	chr22:29306400-29307400	Enhancers	Brain Hippocampus Middle	brain
39	chr22:29306400-29307400	Enhancers	Brain Substantia Nigra	brain
40	chr22:29306400-29307800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:29306400-29307800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:29306400-29308000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr22:29306400-29308200	Enhancers	Right Ventricle	heart
44	chr22:29306400-29308600	Enhancers	Fetal Heart	heart
45	chr22:29306400-29308600	Enhancers	Fetal Muscle Leg	muscle
46	chr22:29306400-29308600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:29306400-29308600	Enhancers	Hela-S3	cervix
48	chr22:29306400-29309200	Enhancers	Liver	Liver
49	chr22:29306400-29309200	Enhancers	Placenta	Placenta
50	chr22:29306400-29309600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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