Variant report

Variant	rs6984595
Chromosome Location	chr8:48824621-48824622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48823109..48828322-chr8:48830609..48833340,5	K562	blood:
2	chr8:48820342..48823046-chr8:48823187..48826342,3	K562	blood:
3	chr8:48823109..48825250-chr8:48831266..48832886,2	K562	blood:
4	chr8:48819941..48822158-chr8:48823187..48826621,4	K562	blood:
5	chr8:48824273..48826627-chr8:48840417..48843621,4	K562	blood:

Variant related genes	Relation type
ENSG00000253729	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10093943	0.90[AFR][1000 genomes]
rs10095249	0.90[AFR][1000 genomes]
rs10097429	0.90[AFR][1000 genomes]
rs11987748	0.90[AFR][1000 genomes]
rs11998483	0.94[AFR][1000 genomes]
rs17287711	0.88[AFR][1000 genomes]
rs28488251	0.90[AFR][1000 genomes]
rs28542480	0.90[AFR][1000 genomes]
rs28699569	0.80[AFR][1000 genomes]
rs28701667	0.90[AFR][1000 genomes]
rs28719542	0.88[AFR][1000 genomes]
rs28751111	0.90[AFR][1000 genomes]
rs28812773	0.82[AFR][1000 genomes]
rs35590911	0.90[AFR][1000 genomes]
rs6473874	0.85[AFR][1000 genomes]
rs6982203	0.90[AFR][1000 genomes]
rs7002719	0.88[AFR][1000 genomes]
rs7819424	0.85[AFR][1000 genomes]
rs7839604	0.82[AFR][1000 genomes]
rs7841307	0.88[AFR][1000 genomes]
rs8178024	0.90[AFR][1000 genomes]
rs8178037	0.94[AFR][1000 genomes]
rs8178117	0.85[AFR][1000 genomes]
rs8178176	0.83[AFR][1000 genomes]
rs8178185	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:48782800-48832200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr8:48785400-48826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:48785400-48833000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:48785800-48832000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:48786400-48833000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:48793800-48832200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:48793800-48870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:48793800-48870800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:48798000-48825200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:48799200-48832000	Strong transcription	Primary B cells from cord blood	blood
18	chr8:48800600-48827000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:48800600-48836000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:48800600-48854000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:48803600-48838000	Strong transcription	Fetal Stomach	stomach
22	chr8:48814000-48853800	Strong transcription	A549	lung
23	chr8:48815400-48832200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr8:48815400-48851600	Weak transcription	Stomach Mucosa	stomach
25	chr8:48818000-48832600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:48818000-48836400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:48818800-48825200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:48818800-48829600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:48819000-48844600	Strong transcription	K562	blood
30	chr8:48819800-48826600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:48820000-48832600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr8:48820000-48857400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:48820000-48871000	Strong transcription	Fetal Intestine Large	intestine
34	chr8:48820200-48826600	Strong transcription	NHLF	lung
35	chr8:48820200-48832600	Strong transcription	Adipose Nuclei	Adipose
36	chr8:48820200-48832800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr8:48820200-48838000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:48820200-48853400	Strong transcription	Fetal Thymus	thymus
39	chr8:48820400-48826800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr8:48820400-48826800	Strong transcription	HUVEC	blood vessel
41	chr8:48820400-48826800	Strong transcription	NHEK	skin
42	chr8:48820400-48827000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:48820400-48827000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:48820400-48827200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr8:48820400-48827200	Strong transcription	Lung	lung
46	chr8:48820400-48829800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:48820400-48829800	Strong transcription	HSMM	muscle
48	chr8:48820400-48830000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:48820400-48831800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:48820400-48831800	Strong transcription	NH-A	brain

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