Variant report

Variant	rs8134638
Chromosome Location	chr21:40644170-40644171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40643852..40645989-chr21:40649449..40651165,2	K562	blood:
2	chr21:40631854..40634672-chr21:40643300..40644841,2	MCF-7	breast:
3	chr21:40631221..40636644-chr21:40641722..40645540,5	MCF-7	breast:
4	chr21:40643299..40646158-chr21:40759123..40761146,2	MCF-7	breast:
5	chr21:40641417..40644269-chr21:40672287..40675035,2	MCF-7	breast:
6	chr21:40643743..40649009-chr21:40684534..40688354,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238141	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000185658	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12482317	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2836950	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836961	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4818008	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62222988	0.87[EUR][1000 genomes]
rs62223042	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[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	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8134638	BRWD1	Cis_1M	lymphoblastoid	RTeQTL
rs8134638	PSMG1	cis	Artery Tibial	GTEx
rs8134638	HMGN1	cis	multi-tissue	Pritchard
rs8134638	HMGN1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr21:40565400-40653600	Strong transcription	Dnd41	blood
7	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:40582800-40654000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr21:40593400-40650800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr21:40603200-40653400	Weak transcription	Right Atrium	heart
11	chr21:40608400-40667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:40613400-40652000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr21:40613800-40651000	Strong transcription	Fetal Thymus	thymus
14	chr21:40614000-40654400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:40614600-40654200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:40614800-40652400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:40616400-40651800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr21:40618000-40659200	Weak transcription	Stomach Mucosa	stomach
19	chr21:40619400-40656200	Weak transcription	Ovary	ovary
20	chr21:40619600-40660200	Weak transcription	Brain Angular Gyrus	brain
21	chr21:40625800-40652400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:40626200-40653400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr21:40626800-40654000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:40630200-40652200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:40630200-40661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr21:40630200-40662800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr21:40630400-40653800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr21:40631200-40647800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr21:40631200-40663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr21:40631600-40646600	Strong transcription	Adipose Nuclei	Adipose
31	chr21:40631600-40650600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr21:40631600-40653400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:40631800-40646000	Weak transcription	Small Intestine	intestine
34	chr21:40631800-40653600	Strong transcription	Fetal Intestine Large	intestine
35	chr21:40632200-40647200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr21:40633200-40653600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr21:40633200-40662800	Weak transcription	Esophagus	oesophagus
38	chr21:40633400-40650800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr21:40635800-40645600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:40635800-40653400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr21:40635800-40653600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:40636400-40646800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr21:40636600-40652000	Weak transcription	Fetal Heart	heart
44	chr21:40636600-40659000	Weak transcription	Colon Smooth Muscle	Colon
45	chr21:40637000-40646000	Weak transcription	Fetal Brain Male	brain
46	chr21:40637200-40649400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr21:40638200-40665000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr21:40638600-40649600	Weak transcription	Aorta	Aorta
49	chr21:40638600-40657000	Weak transcription	HMEC	breast
50	chr21:40638600-40659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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