Variant report

Variant	rs6831308
Chromosome Location	chr4:82420980-82420981
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82419318..82421780-chr4:82425169..82427385,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17005126	1.00[AMR][1000 genomes]
rs17005137	1.00[AMR][1000 genomes]
rs57767495	0.82[AFR][1000 genomes]
rs58213670	0.82[AFR][1000 genomes]
rs6844571	1.00[AMR][1000 genomes]
rs6845421	0.95[AFR][1000 genomes]
rs6847878	1.00[AMR][1000 genomes]
rs6849758	1.00[AMR][1000 genomes]
rs6854417	1.00[AMR][1000 genomes]
rs72883087	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005254	chr4:82416237-82521768	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82413800-82425200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:82415400-82421000	Weak transcription	Brain Anterior Caudate	brain
3	chr4:82415800-82421000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:82415800-82423800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:82415800-82425800	Weak transcription	Right Atrium	heart
6	chr4:82415800-82426000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:82416000-82421000	Weak transcription	Fetal Thymus	thymus
8	chr4:82416400-82421600	Weak transcription	Adipose Nuclei	Adipose
9	chr4:82416600-82427600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:82417200-82423400	Weak transcription	Primary B cells from cord blood	blood
11	chr4:82419000-82421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:82419000-82421200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:82419000-82421400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:82419400-82421200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:82419400-82421600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:82419400-82423000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:82419600-82425200	Weak transcription	Lung	lung
18	chr4:82419600-82425400	Weak transcription	Placenta	Placenta
19	chr4:82419800-82421400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:82419800-82425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:82420000-82421000	Enhancers	Fetal Brain Female	brain
22	chr4:82420000-82421400	Enhancers	Primary T cells from cord blood	blood
23	chr4:82420000-82421400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:82420000-82421800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:82420200-82424200	Enhancers	Fetal Brain Male	brain
26	chr4:82420400-82421400	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:82420400-82421400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:82420400-82421400	Enhancers	Fetal Lung	lung
29	chr4:82420400-82422600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:82420400-82424600	Enhancers	Brain Germinal Matrix	brain
31	chr4:82420600-82421400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr4:82420600-82425800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:82420800-82422000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:82420800-82422200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:82420800-82431600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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