Variant report

Variant	rs7991974
Chromosome Location	chr13:111095377-111095378
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	chr13:111084219..111086647-chr13:111094030..111095986,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11616263	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11839601	0.86[ASN][1000 genomes]
rs12856221	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4255644	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4505178	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61963240	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7987209	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521757	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv901008	chr13:111089573-111126501	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111068000-111107000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:111077200-111095600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr13:111078200-111099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
6	chr13:111079200-111097600	Weak transcription	Fetal Brain Female	brain
7	chr13:111080600-111095800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:111081800-111096600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:111083600-111095400	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:111083600-111110000	Weak transcription	Esophagus	oesophagus
11	chr13:111084200-111106400	Weak transcription	Liver	Liver
12	chr13:111084400-111100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:111084800-111098800	Strong transcription	Fetal Stomach	stomach
14	chr13:111086000-111095400	Weak transcription	Right Atrium	heart
15	chr13:111086000-111105800	Strong transcription	Adipose Nuclei	Adipose
16	chr13:111087200-111095400	Weak transcription	Fetal Brain Male	brain
17	chr13:111087400-111099400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr13:111087400-111099600	Weak transcription	Pancreas	Pancrea
19	chr13:111088000-111107800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:111088600-111095400	Strong transcription	Right Ventricle	heart
21	chr13:111089400-111100000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr13:111089800-111096000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr13:111091000-111098200	Weak transcription	Gastric	stomach
24	chr13:111091000-111108400	Weak transcription	Brain Angular Gyrus	brain
25	chr13:111091200-111095400	Weak transcription	Small Intestine	intestine
26	chr13:111092400-111098400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:111092600-111099400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr13:111092600-111099400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:111093000-111096400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:111093600-111097000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:111093600-111098200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:111093600-111098600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:111093800-111095400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:111093800-111096200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:111093800-111099400	Weak transcription	Fetal Lung	lung
36	chr13:111093800-111099600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr13:111093800-111101400	Genic enhancers	NH-A	brain
38	chr13:111093800-111108200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr13:111094000-111097600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr13:111094000-111097800	Weak transcription	HSMMtube	muscle
41	chr13:111094000-111102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr13:111094000-111102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr13:111094200-111097600	Weak transcription	Lung	lung
44	chr13:111094200-111098200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:111094400-111096000	Weak transcription	Left Ventricle	heart
46	chr13:111094400-111096200	Enhancers	Fetal Intestine Large	intestine
47	chr13:111094400-111096400	Genic enhancers	HUVEC	blood vessel
48	chr13:111094400-111096600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:111094600-111095400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:111094600-111095600	Genic enhancers	Spleen	Spleen

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