Variant report

Variant	rs2836440
Chromosome Location	chr21:39865339-39865340
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	chr21:39774988..39777692-chr21:39864933..39866829,2	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]
rs11700443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13052107	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836420	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2836439	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836444	0.86[ASN][1000 genomes]
rs35568883	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71316645	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9982370	0.91[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	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39859600-39865600	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:39860200-39865400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:39860200-39865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:39860200-39865600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:39860400-39879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:39861000-39865800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:39861000-39867600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr21:39861200-39866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:39861400-39865600	Weak transcription	Thymus	Thymus
10	chr21:39861400-39866200	Weak transcription	NH-A	brain
11	chr21:39861800-39867600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr21:39862000-39865600	Weak transcription	HMEC	breast
13	chr21:39862000-39866400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:39862000-39866600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:39862000-39872200	Weak transcription	Gastric	stomach
16	chr21:39862000-39877400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:39862200-39866000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:39862200-39871200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:39862400-39866800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr21:39862600-39869400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:39862800-39865600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:39862800-39865600	Weak transcription	Adipose Nuclei	Adipose
23	chr21:39862800-39865600	Weak transcription	Aorta	Aorta
24	chr21:39862800-39865600	Weak transcription	Lung	lung
25	chr21:39862800-39865600	Weak transcription	Pancreas	Pancrea
26	chr21:39862800-39865600	Weak transcription	Spleen	Spleen
27	chr21:39862800-39866200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr21:39862800-39866600	Weak transcription	Right Ventricle	heart
29	chr21:39863000-39865600	Weak transcription	Left Ventricle	heart
30	chr21:39863000-39865600	Weak transcription	Right Atrium	heart
31	chr21:39863000-39866200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr21:39863600-39865600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr21:39863600-39865600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr21:39863800-39865600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr21:39863800-39865600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr21:39863800-39866600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr21:39864200-39866200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr21:39864600-39865600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr21:39864600-39866200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr21:39864800-39866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr21:39864800-39866800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
42	chr21:39865000-39865400	Enhancers	Primary hematopoietic stem cells	blood
43	chr21:39865000-39867800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
44	chr21:39865200-39866200	Enhancers	Primary B cells from cord blood	blood
45	chr21:39865200-39866200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:39865200-39866800	Enhancers	HSMMtube	muscle
47	chr21:39865200-39867000	Enhancers	Fetal Thymus	thymus

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