Variant report

Variant	rs11910637
Chromosome Location	chr21:39868781-39868782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39868583..39871033-chr21:39873297..39876116,2	K562	blood:
2	chr21:39866030..39869325-chr21:39869672..39873977,4	MCF-7	breast:
3	chr21:39868178..39870338-chr21:39876801..39879710,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157554	Chromatin interaction
ENSG00000231480	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1015022	0.95[ASN][1000 genomes]
rs2212931	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836426	0.82[AMR][1000 genomes]
rs2836443	0.99[ASN][1000 genomes]
rs2836445	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836458	0.87[ASN][1000 genomes]
rs2836466	0.86[ASN][1000 genomes]
rs2836469	0.86[ASN][1000 genomes]
rs2836472	0.85[ASN][1000 genomes]
rs2836473	0.83[ASN][1000 genomes]
rs3827204	0.86[ASN][1000 genomes]
rs9305650	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1796335	chr21:39866997-39868968	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39860400-39879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:39862000-39872200	Weak transcription	Gastric	stomach
3	chr21:39862000-39877400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:39862200-39871200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:39862600-39869400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:39865800-39871000	Active TSS	Adipose Nuclei	Adipose
7	chr21:39866200-39870400	Active TSS	Right Atrium	heart
8	chr21:39866200-39870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:39866600-39870200	Active TSS	Psoas Muscle	Psoas
10	chr21:39866800-39869400	Weak transcription	Aorta	Aorta
11	chr21:39866800-39869400	Weak transcription	Spleen	Spleen
12	chr21:39866800-39870400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr21:39866800-39870400	Active TSS	Fetal Muscle Leg	muscle
14	chr21:39866800-39875200	Weak transcription	HMEC	breast
15	chr21:39867000-39869200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr21:39867000-39869400	Active TSS	Fetal Thymus	thymus
17	chr21:39867000-39869600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr21:39867000-39870400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:39867000-39878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:39867200-39868800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:39867200-39870400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr21:39867200-39871400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:39867200-39877200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:39867400-39869200	Weak transcription	Fetal Kidney	kidney
25	chr21:39867600-39869200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr21:39867600-39870000	Active TSS	Brain Anterior Caudate	brain
27	chr21:39867600-39870200	Active TSS	Fetal Stomach	stomach
28	chr21:39867800-39869000	Weak transcription	Liver	Liver
29	chr21:39867800-39869200	Weak transcription	Ovary	ovary
30	chr21:39867800-39869200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr21:39867800-39870400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr21:39867800-39870600	Active TSS	HUVEC	blood vessel
33	chr21:39868000-39869200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr21:39868000-39869200	Weak transcription	Placenta	Placenta
35	chr21:39868000-39869200	Weak transcription	Lung	lung
36	chr21:39868000-39869200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr21:39868000-39870200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr21:39868200-39869200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr21:39868400-39868800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr21:39868400-39869200	Active TSS	Primary hematopoietic stem cells	blood
41	chr21:39868400-39869200	Weak transcription	Left Ventricle	heart
42	chr21:39868400-39869200	Weak transcription	Right Ventricle	heart
43	chr21:39868400-39869200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr21:39868400-39870000	Active TSS	Brain Hippocampus Middle	brain
45	chr21:39868400-39870200	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr21:39868400-39875200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr21:39868600-39869000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr21:39868600-39870200	Active TSS	Rectal Mucosa Donor 29	rectum

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