Variant report

Variant	rs4942987
Chromosome Location	chr13:51852035-51852036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51851052..51852556-chr13:51855071..51857064,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17837209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941695	0.86[ASN][1000 genomes]
rs59452788	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73195965	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596491	0.80[ASN][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	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
2	esv3521018	chr13:51851849-51852043	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51826400-51854600	Weak transcription	Aorta	Aorta
2	chr13:51833600-51860400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:51834200-51856400	Weak transcription	Gastric	stomach
4	chr13:51837600-51852600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:51837800-51860400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:51839800-51854600	Weak transcription	Lung	lung
7	chr13:51840000-51852200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:51840000-51852600	Weak transcription	Fetal Stomach	stomach
9	chr13:51841200-51858000	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:51841600-51857600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr13:51844200-51853600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:51845000-51852400	Weak transcription	Spleen	Spleen
13	chr13:51845600-51853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:51846000-51852200	Weak transcription	Fetal Brain Female	brain
15	chr13:51846000-51853400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:51846200-51852600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:51846400-51853600	Weak transcription	Brain Germinal Matrix	brain
18	chr13:51846400-51866400	Weak transcription	Fetal Brain Male	brain
19	chr13:51846600-51865600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:51846600-51865600	Weak transcription	Fetal Lung	lung
21	chr13:51848000-51854800	Enhancers	Fetal Heart	heart
22	chr13:51850000-51854800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr13:51850200-51852400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:51850200-51865600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:51850400-51854400	Weak transcription	Right Ventricle	heart
26	chr13:51850600-51853800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:51850600-51854400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:51850800-51852400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr13:51850800-51852400	Weak transcription	Brain Substantia Nigra	brain
30	chr13:51850800-51853600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:51850800-51856600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr13:51851000-51852200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:51851000-51852400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:51851000-51856600	Weak transcription	Right Atrium	heart
35	chr13:51851000-51866400	Weak transcription	Adipose Nuclei	Adipose
36	chr13:51851200-51852200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:51851200-51852200	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:51851200-51852400	Weak transcription	Brain Anterior Caudate	brain
39	chr13:51851200-51852400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr13:51851200-51856200	Weak transcription	Liver	Liver
41	chr13:51851200-51856400	Weak transcription	Pancreas	Pancrea
42	chr13:51851200-51865600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr13:51851400-51852200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:51851400-51852400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr13:51851800-51853000	Enhancers	Brain Angular Gyrus	brain
46	chr13:51851800-51853200	Enhancers	Colon Smooth Muscle	Colon
47	chr13:51851800-51853800	Enhancers	Rectal Smooth Muscle	rectum
48	chr13:51852000-51852600	Enhancers	Stomach Smooth Muscle	stomach
49	chr13:51852000-51853000	Genic enhancers	Left Ventricle	heart
50	chr13:51852000-51853200	Genic enhancers	Brain Inferior Temporal Lobe	brain

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