Variant report

Variant	rs11909765
Chromosome Location	chr21:39860732-39860733
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	chr21:39860012..39862527-chr21:39874873..39876788,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11908941	1.00[ASW][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11909285	0.82[AFR][1000 genomes]
rs16996348	1.00[EUR][1000 genomes]
rs16996607	1.00[CHD][hapmap]
rs16996660	1.00[CHD][hapmap]
rs17815661	1.00[CHD][hapmap]
rs2836457	0.87[ASW][hapmap]
rs2836462	0.87[ASW][hapmap]
rs2836539	1.00[EUR][1000 genomes]
rs2836540	1.00[EUR][1000 genomes]
rs2836584	1.00[CHD][hapmap]
rs7283796	1.00[CHD][hapmap]
rs73429417	1.00[EUR][1000 genomes]
rs73429432	1.00[EUR][1000 genomes]
rs73440129	1.00[EUR][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	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1064436	chr21:39846571-39875576	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr21:39855000-39861800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:39855400-39860800	Enhancers	NHEK	skin
3	chr21:39856400-39862200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr21:39857000-39860800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:39857600-39861800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:39857800-39860800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:39857800-39860800	Enhancers	HMEC	breast
8	chr21:39858000-39862400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr21:39858000-39864000	Enhancers	Fetal Heart	heart
10	chr21:39858200-39860800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:39858200-39861000	Enhancers	Esophagus	oesophagus
12	chr21:39858200-39861400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr21:39858400-39862000	Enhancers	Stomach Mucosa	stomach
14	chr21:39858800-39861200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr21:39858800-39861400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr21:39858800-39862800	Enhancers	Adipose Nuclei	Adipose
17	chr21:39859000-39862400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr21:39859400-39862800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr21:39859400-39863800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:39859600-39861800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr21:39859600-39862000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:39859600-39862000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr21:39859600-39865600	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:39859800-39860800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:39859800-39861000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr21:39859800-39861400	Enhancers	Primary T cells from cord blood	blood
27	chr21:39859800-39861400	Enhancers	Gastric	stomach
28	chr21:39859800-39862000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:39859800-39862200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr21:39859800-39862400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr21:39859800-39863000	Enhancers	Fetal Thymus	thymus
32	chr21:39859800-39864000	Weak transcription	Fetal Lung	lung
33	chr21:39859800-39864200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr21:39860000-39861200	Weak transcription	Right Atrium	heart
35	chr21:39860000-39861400	Enhancers	Thymus	Thymus
36	chr21:39860000-39861600	Weak transcription	Left Ventricle	heart
37	chr21:39860000-39861800	Enhancers	Fetal Intestine Large	intestine
38	chr21:39860000-39862200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:39860200-39860800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr21:39860200-39861000	Weak transcription	Colonic Mucosa	Colon
41	chr21:39860200-39861200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr21:39860200-39861400	Enhancers	Primary B cells from cord blood	blood
43	chr21:39860200-39861400	Enhancers	NH-A	brain
44	chr21:39860200-39861600	Weak transcription	Aorta	Aorta
45	chr21:39860200-39861600	Enhancers	HepG2	liver
46	chr21:39860200-39862400	Weak transcription	Lung	lung
47	chr21:39860200-39862400	Weak transcription	Right Ventricle	heart
48	chr21:39860200-39865400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:39860200-39865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:39860200-39865600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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