Variant report

Variant	rs1063308
Chromosome Location	chr21:37747607-37747608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37741298..37746012-chr21:37746640..37750181,4	K562	blood:
2	chr21:37746140..37748038-chr21:37748228..37751110,2	K562	blood:
3	chr21:37726224..37728730-chr21:37747390..37750092,2	K562	blood:

Variant related genes	Relation type
ENSG00000159256	Chromatin interaction

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

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

rs_ID	r²[population]
rs17814122	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1906487	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56299925	1.00[ASN][1000 genomes]
rs61741099	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202277	1.00[ASN][1000 genomes]
rs8127277	1.00[ASN][1000 genomes]
rs8127711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129103	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129295	1.00[ASN][1000 genomes]
rs8130294	0.88[EUR][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	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1796009	chr21:37708503-37763979	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv3505	chr21:37739377-37748071	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37699400-37757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:37701200-37750600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:37701600-37751400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:37704800-37751400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr21:37705400-37748400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr21:37705400-37750600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr21:37705600-37750400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr21:37705600-37750600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr21:37705600-37751400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr21:37705800-37751200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:37705800-37751200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr21:37706000-37750600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr21:37706000-37750600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr21:37706000-37750600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:37706000-37750800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:37706200-37750400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:37706200-37750800	Strong transcription	Liver	Liver
18	chr21:37708600-37751400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:37709200-37750600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr21:37709200-37750600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr21:37709600-37748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr21:37711400-37757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:37713000-37750800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:37722800-37757400	Weak transcription	Right Atrium	heart
25	chr21:37722800-37757600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr21:37723400-37750600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:37723600-37750400	Strong transcription	Osteobl	bone
28	chr21:37724800-37751400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:37726200-37748600	Strong transcription	Fetal Intestine Large	intestine
30	chr21:37726200-37749800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:37726200-37750600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr21:37726200-37750600	Strong transcription	Adipose Nuclei	Adipose
33	chr21:37726200-37750600	Strong transcription	Fetal Thymus	thymus
34	chr21:37726400-37751200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr21:37726800-37750600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr21:37726800-37750600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr21:37727000-37747800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr21:37727000-37750600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:37727000-37751200	Strong transcription	Placenta	Placenta
40	chr21:37727400-37750600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr21:37727600-37750400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:37727600-37751400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:37728200-37750600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:37728400-37750800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:37729000-37748200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr21:37729000-37750400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr21:37729000-37750600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr21:37729200-37750600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr21:37729800-37749800	Strong transcription	Fetal Muscle Leg	muscle
50	chr21:37730200-37748600	Strong transcription	H1 Cell Line	embryonic stem cell

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