Variant report

Variant	rs2624809
Chromosome Location	chr8:130927424-130927425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130920727..130922896-chr8:130924444..130927527,3	K562	blood:
2	chr8:130927319..130929438-chr8:130934732..130937622,2	K562	blood:
3	chr8:130908195..130912113-chr8:130924701..130928264,3	K562	blood:
4	chr8:130899351..130900915-chr8:130924645..130927634,2	K562	blood:
5	chr8:130927294..130929703-chr8:130944717..130947284,2	K562	blood:
6	chr8:130924765..130927470-chr8:131026924..131028748,2	K562	blood:
7	chr8:130926539..130930830-chr8:130934319..130938827,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10956493	1.00[JPT][hapmap]
rs1600932	1.00[JPT][hapmap]
rs1600933	1.00[JPT][hapmap]
rs1600934	1.00[JPT][hapmap]
rs17190932	1.00[JPT][hapmap]
rs177113	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842793	1.00[JPT][hapmap]
rs1967019	1.00[JPT][hapmap]
rs2449414	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2624810	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2624813	1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2777699	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs298608	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs298621	1.00[JPT][hapmap]
rs298622	1.00[JPT][hapmap]
rs372984	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439184	0.95[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs448220	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs837083	0.95[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs967974	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv521998	chr8:130921162-130932427	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:130901000-130929200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:130904000-130930200	Weak transcription	Hela-S3	cervix
5	chr8:130904000-130950600	Weak transcription	HSMM	muscle
6	chr8:130904400-130928600	Weak transcription	Brain Anterior Caudate	brain
7	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:130907000-130928600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:130907800-130929000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
12	chr8:130913600-130929400	Weak transcription	Primary T cells from cord blood	blood
13	chr8:130917000-130944600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:130917400-130928400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:130917600-130951200	Weak transcription	Pancreas	Pancrea
16	chr8:130918000-130949400	Weak transcription	GM12878-XiMat	blood
17	chr8:130922400-130930200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:130922400-130933400	Weak transcription	Primary B cells from cord blood	blood
19	chr8:130922400-130936400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:130922400-130950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:130922600-130928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:130922600-130929400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:130923000-130951000	Weak transcription	Right Atrium	heart
24	chr8:130923200-130937000	Weak transcription	Left Ventricle	heart
25	chr8:130923200-130941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:130923600-130927600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:130924000-130927600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:130924000-130933600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:130924200-130928800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:130924600-130928200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:130924800-130946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:130925200-130928800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:130925400-130930200	Weak transcription	HMEC	breast
34	chr8:130925600-130929400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:130925600-130936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:130925800-130928400	Weak transcription	Fetal Heart	heart
37	chr8:130925800-130929800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr8:130925800-130934400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:130926000-130927600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:130926000-130931200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:130926000-130936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:130926000-130944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:130926200-130928200	ZNF genes & repeats	A549	lung
44	chr8:130926400-130929200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr8:130926400-130931000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:130926600-130928800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:130926600-130929000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:130926600-130929400	Weak transcription	Psoas Muscle	Psoas
49	chr8:130926800-130928600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:130926800-130928600	Weak transcription	Brain Angular Gyrus	brain

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