Variant report

Variant	rs73490186
Chromosome Location	chr13:51833126-51833127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51828873..51831199-chr13:51831782..51833897,3	K562	blood:
2	chr13:51831560..51833601-chr13:52377914..52379439,2	K562	blood:
3	chr13:51825741..51827924-chr13:51832786..51834447,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102796	Chromatin interaction
ENSG00000231856	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11838593	1.00[EUR][1000 genomes]
rs11841027	1.00[EUR][1000 genomes]
rs11841154	1.00[EUR][1000 genomes]
rs11843842	1.00[EUR][1000 genomes]
rs1475378	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011760	1.00[EUR][1000 genomes]
rs57325570	1.00[EUR][1000 genomes]
rs57546351	1.00[EUR][1000 genomes]
rs57856090	1.00[EUR][1000 genomes]
rs57873646	1.00[EUR][1000 genomes]
rs58004754	1.00[EUR][1000 genomes]
rs58286739	1.00[EUR][1000 genomes]
rs58791839	1.00[EUR][1000 genomes]
rs58955860	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59146135	1.00[EUR][1000 genomes]
rs59439755	1.00[EUR][1000 genomes]
rs59488627	1.00[EUR][1000 genomes]
rs59816449	1.00[EUR][1000 genomes]
rs61016784	1.00[EUR][1000 genomes]
rs61041802	1.00[EUR][1000 genomes]
rs61075891	1.00[EUR][1000 genomes]
rs61520022	1.00[EUR][1000 genomes]
rs61539526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7317441	1.00[EUR][1000 genomes]
rs7323479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7323723	1.00[EUR][1000 genomes]
rs7324083	1.00[EUR][1000 genomes]
rs7333250	1.00[EUR][1000 genomes]
rs73488042	1.00[EUR][1000 genomes]
rs73488047	1.00[EUR][1000 genomes]
rs73488050	1.00[EUR][1000 genomes]
rs73488064	1.00[EUR][1000 genomes]
rs73488066	1.00[EUR][1000 genomes]
rs73488070	1.00[EUR][1000 genomes]
rs73488073	1.00[EUR][1000 genomes]
rs73488076	1.00[EUR][1000 genomes]
rs73488091	1.00[EUR][1000 genomes]
rs73488094	1.00[EUR][1000 genomes]
rs73488097	1.00[EUR][1000 genomes]
rs73490136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490160	1.00[AMR][1000 genomes]
rs73490161	1.00[AMR][1000 genomes]
rs73490165	1.00[AMR][1000 genomes]
rs73490189	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490197	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492203	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7987480	1.00[EUR][1000 genomes]
rs7994215	1.00[EUR][1000 genomes]
rs7997296	1.00[EUR][1000 genomes]
rs7997385	1.00[EUR][1000 genomes]
rs9316538	1.00[EUR][1000 genomes]
rs9596451	1.00[EUR][1000 genomes]
rs9596500	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	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51816200-51836600	Weak transcription	Adipose Nuclei	Adipose
2	chr13:51816800-51836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:51821400-51833200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:51821400-51833800	Weak transcription	Gastric	stomach
5	chr13:51821600-51836200	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:51821600-51839000	Weak transcription	Esophagus	oesophagus
7	chr13:51821600-51845000	Weak transcription	Fetal Brain Male	brain
8	chr13:51822200-51833200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:51824200-51844000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:51824400-51836600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:51825200-51833200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr13:51825400-51840600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:51826000-51833600	Weak transcription	Pancreas	Pancrea
14	chr13:51826400-51833200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:51826400-51833800	Weak transcription	Lung	lung
16	chr13:51826400-51854600	Weak transcription	Aorta	Aorta
17	chr13:51828400-51834600	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:51829400-51835800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:51829800-51835800	Strong transcription	Fetal Stomach	stomach
20	chr13:51829800-51836000	Strong transcription	Fetal Brain Female	brain
21	chr13:51830000-51833600	Weak transcription	Thymus	Thymus
22	chr13:51830400-51833600	Weak transcription	Right Atrium	heart
23	chr13:51830400-51835800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:51830600-51834800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr13:51830800-51834600	Genic enhancers	Brain Inferior Temporal Lobe	brain
26	chr13:51830800-51836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:51831000-51833200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:51831000-51834000	Genic enhancers	Brain Substantia Nigra	brain
29	chr13:51831200-51833800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:51831400-51834200	Weak transcription	Brain Germinal Matrix	brain
31	chr13:51831600-51834400	Enhancers	Fetal Heart	heart
32	chr13:51831800-51836400	Genic enhancers	Brain Hippocampus Middle	brain
33	chr13:51832000-51835000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:51832000-51837800	Genic enhancers	Brain Cingulate Gyrus	brain
35	chr13:51832200-51835600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr13:51832200-51835800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:51832600-51833400	Enhancers	Brain Anterior Caudate	brain
38	chr13:51832600-51833600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr13:51832600-51833800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr13:51832600-51833800	Enhancers	Brain Angular Gyrus	brain
41	chr13:51832600-51834000	Genic enhancers	H1 Cell Line	embryonic stem cell
42	chr13:51832600-51836200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr13:51832600-51837600	Enhancers	Left Ventricle	heart
44	chr13:51832800-51833600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr13:51832800-51833600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr13:51832800-51834000	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:51832800-51834200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:51832800-51834600	Genic enhancers	Spleen	Spleen
49	chr13:51832800-51843200	Weak transcription	Fetal Lung	lung
50	chr13:51833000-51833200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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