Variant report

Variant	rs74046013
Chromosome Location	chr13:30972652-30972653
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30971670..30974285-chr13:30978134..30981517,3	MCF-7	breast:
2	chr13:30971648..30973683-chr13:30978743..30981509,2	K562	blood:
3	chr13:30972501..30974234-chr3:130262413..130263913,2	MCF-7	breast:
4	chr13:30970632..30975368-chr13:30976139..30980385,5	MCF-7	breast:
5	chr13:30972183..30974751-chr13:30980009..30982841,2	K562	blood:
6	chr13:30970496..30972876-chr13:31189644..31192499,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132952	Chromatin interaction
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11839654	1.00[EUR][1000 genomes]
rs17074595	1.00[EUR][1000 genomes]
rs28626651	1.00[EUR][1000 genomes]
rs35109193	1.00[EUR][1000 genomes]
rs55923400	1.00[AMR][1000 genomes]
rs56310320	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs611896	1.00[AMR][1000 genomes]
rs61218246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443628	1.00[EUR][1000 genomes]
rs73443656	1.00[EUR][1000 genomes]
rs73443658	1.00[EUR][1000 genomes]
rs73445867	1.00[EUR][1000 genomes]
rs73445892	1.00[EUR][1000 genomes]
rs74043098	1.00[EUR][1000 genomes]
rs74046004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74046005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74046008	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74046016	1.00[AMR][1000 genomes]
rs846485	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30970000-30976000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:30970000-30982200	Weak transcription	Esophagus	oesophagus
3	chr13:30970200-30973000	Weak transcription	Right Atrium	heart
4	chr13:30970200-30976400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:30970200-30982200	Weak transcription	Psoas Muscle	Psoas
6	chr13:30970600-30972800	Weak transcription	Stomach Mucosa	stomach
7	chr13:30970600-30982200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:30970800-30973600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:30970800-30975000	Enhancers	Liver	Liver
10	chr13:30970800-30975200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:30970800-30975400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:30970800-30975400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:30970800-30975800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr13:30970800-30975800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr13:30970800-30978400	Weak transcription	Fetal Kidney	kidney
16	chr13:30970800-30982000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr13:30972400-30972800	Enhancers	Stomach Smooth Muscle	stomach
18	chr13:30972400-30973000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr13:30972400-30973000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:30972400-30973000	Enhancers	Thymus	Thymus
21	chr13:30972400-30973000	Enhancers	Osteobl	bone
22	chr13:30972400-30973200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:30972400-30973400	Enhancers	Fetal Thymus	thymus
24	chr13:30972400-30973400	Flanking Active TSS	HepG2	liver
25	chr13:30972400-30973600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:30972400-30973600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:30972400-30973600	Enhancers	Colonic Mucosa	Colon
28	chr13:30972400-30975000	Enhancers	Fetal Intestine Large	intestine
29	chr13:30972600-30973000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:30972600-30973000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:30972600-30973000	Enhancers	NHDF-Ad	bronchial
32	chr13:30972600-30973400	Enhancers	Adipose Nuclei	Adipose
33	chr13:30972600-30973400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr13:30972600-30973400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr13:30972600-30973600	Enhancers	Duodenum Mucosa	Duodenum
36	chr13:30972600-30973600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr13:30972600-30975000	Enhancers	Fetal Intestine Small	intestine

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