Variant report

Variant	rs6871517
Chromosome Location	chr5:108101750-108101751
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	chr5:108082154..108086653-chr5:108099254..108105297,6	K562	blood:
2	chr5:108083498..108086602-chr5:108101518..108103810,3	K562	blood:

Variant related genes	Relation type
ENSG00000151422	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12109934	0.81[ASN][1000 genomes]
rs4616948	0.92[ASN][1000 genomes]
rs57977516	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59070487	0.98[ASN][1000 genomes]
rs6594335	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6594337	1.00[ASN][1000 genomes]
rs6880917	0.94[ASN][1000 genomes]
rs6883442	0.85[ASN][1000 genomes]
rs6893574	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6893743	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73207536	0.90[ASN][1000 genomes]
rs73222017	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73222018	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73222019	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73222024	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73222036	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7703860	0.98[ASN][1000 genomes]
rs7710347	0.90[ASN][1000 genomes]
rs7713158	0.89[ASN][1000 genomes]
rs7715208	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7723765	0.85[ASN][1000 genomes]
rs7725263	0.85[ASN][1000 genomes]
rs7734520	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108085600-108102600	Weak transcription	Lung	lung
2	chr5:108085600-108119800	Weak transcription	Left Ventricle	heart
3	chr5:108086200-108119200	Weak transcription	Fetal Kidney	kidney
4	chr5:108086200-108120600	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:108089800-108119400	Weak transcription	Hela-S3	cervix
6	chr5:108089800-108119800	Weak transcription	HSMM	muscle
7	chr5:108090000-108105000	Weak transcription	NHLF	lung
8	chr5:108090000-108109800	Weak transcription	Adipose Nuclei	Adipose
9	chr5:108090200-108127600	Weak transcription	NH-A	brain
10	chr5:108095000-108122600	Weak transcription	Right Ventricle	heart
11	chr5:108095600-108119400	Weak transcription	Aorta	Aorta
12	chr5:108095800-108102600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:108096000-108119600	Weak transcription	Primary B cells from cord blood	blood
14	chr5:108096200-108109600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:108096200-108119800	Weak transcription	HSMMtube	muscle
16	chr5:108096400-108102200	Weak transcription	NHEK	skin
17	chr5:108096400-108102400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:108096400-108102400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:108096400-108105600	Weak transcription	HMEC	breast
20	chr5:108096400-108107200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:108096400-108107600	Weak transcription	Fetal Lung	lung
22	chr5:108096400-108108400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:108096400-108109200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:108096400-108109400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:108096400-108110400	Weak transcription	Fetal Brain Female	brain
26	chr5:108096400-108112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:108096400-108134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:108096600-108109600	Weak transcription	Fetal Intestine Small	intestine
29	chr5:108096600-108119400	Weak transcription	Primary T cells from cord blood	blood
30	chr5:108096800-108109000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:108098200-108102600	Weak transcription	Gastric	stomach
32	chr5:108098400-108105000	Weak transcription	Brain Anterior Caudate	brain
33	chr5:108098400-108106200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:108098400-108111600	Weak transcription	Brain Angular Gyrus	brain
35	chr5:108098400-108128000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:108098600-108106800	Weak transcription	Fetal Thymus	thymus
37	chr5:108098600-108107000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:108098600-108107800	Weak transcription	Brain Substantia Nigra	brain
39	chr5:108098800-108102400	Weak transcription	K562	blood
40	chr5:108099200-108107000	Weak transcription	Fetal Brain Male	brain
41	chr5:108099200-108107600	Weak transcription	Ovary	ovary
42	chr5:108099200-108114600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:108099200-108119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:108099200-108119400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:108099200-108119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:108099400-108102200	Weak transcription	Fetal Heart	heart
47	chr5:108099400-108108200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:108099400-108119200	Weak transcription	A549	lung
49	chr5:108099400-108122400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:108099600-108102400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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