Variant report

Variant	rs4942982
Chromosome Location	chr13:51816665-51816666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51804724..51807237-chr13:51815591..51817634,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1022854	1.00[CHB][hapmap]
rs17075482	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4942984	0.81[ASW][hapmap]
rs7995246	1.00[CHB][hapmap]
rs9535627	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9568572	1.00[CHB][hapmap]
rs9591400	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs9596486	1.00[JPT][hapmap];0.87[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	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51799800-51818200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:51805200-51825600	Weak transcription	Aorta	Aorta
3	chr13:51808000-51821200	Enhancers	Brain Substantia Nigra	brain
4	chr13:51808400-51821400	Enhancers	Fetal Heart	heart
5	chr13:51808600-51820000	Weak transcription	Fetal Brain Female	brain
6	chr13:51809000-51818200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:51810000-51818200	Weak transcription	Brain Germinal Matrix	brain
8	chr13:51810200-51818200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:51810200-51820200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr13:51810400-51818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:51810400-51820000	Weak transcription	Fetal Brain Male	brain
12	chr13:51810600-51818200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:51812600-51820600	Weak transcription	Right Ventricle	heart
14	chr13:51812600-51821000	Weak transcription	Spleen	Spleen
15	chr13:51813200-51822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:51813600-51821200	Enhancers	Brain Cingulate Gyrus	brain
17	chr13:51813800-51816800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr13:51813800-51817400	Enhancers	Brain Hippocampus Middle	brain
19	chr13:51813800-51818600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr13:51814000-51817000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr13:51814000-51817200	Enhancers	Stomach Smooth Muscle	stomach
22	chr13:51814000-51817600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr13:51814000-51819000	Enhancers	Colon Smooth Muscle	Colon
24	chr13:51814000-51820600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr13:51814200-51817400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:51814200-51820200	Enhancers	Brain Anterior Caudate	brain
27	chr13:51814400-51817400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr13:51814400-51817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:51814400-51817800	Enhancers	Fetal Stomach	stomach
30	chr13:51814400-51819000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:51814600-51818200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr13:51814800-51816800	Enhancers	Fetal Lung	lung
33	chr13:51814800-51817800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:51815000-51817200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr13:51815000-51821400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:51815400-51817200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr13:51815400-51818000	Weak transcription	Left Ventricle	heart
38	chr13:51815600-51821000	Weak transcription	Right Atrium	heart
39	chr13:51815800-51816800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:51816000-51816800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr13:51816000-51817000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:51816000-51817000	Weak transcription	Brain Angular Gyrus	brain
43	chr13:51816000-51817200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr13:51816000-51818600	Enhancers	Rectal Smooth Muscle	rectum
45	chr13:51816000-51818800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:51816200-51819000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:51816200-51820600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr13:51816200-51836600	Weak transcription	Adipose Nuclei	Adipose
49	chr13:51816400-51816800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
50	chr13:51816400-51817800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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