Variant report

Variant	rs4733750
Chromosome Location	chr8:130939125-130939126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130930636..130935048-chr8:130935084..130940151,7	K562	blood:
2	chr8:130937344..130939463-chr8:130940607..130943087,2	K562	blood:
3	chr8:130935521..130943463-chr8:130948272..130954404,11	K562	blood:
4	chr8:130929142..130931914-chr8:130936634..130939262,2	MCF-7	breast:
5	chr8:130931267..130935486-chr8:130937892..130940092,5	K562	blood:
6	chr8:130937201..130939813-chr8:130948093..130951512,3	K562	blood:

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10089850	1.00[CEU][hapmap]
rs1670745	0.81[CHD][hapmap]
rs16904179	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130904000-130950600	Weak transcription	HSMM	muscle
2	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
5	chr8:130917000-130944600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:130917600-130951200	Weak transcription	Pancreas	Pancrea
7	chr8:130918000-130949400	Weak transcription	GM12878-XiMat	blood
8	chr8:130922400-130950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:130923000-130951000	Weak transcription	Right Atrium	heart
10	chr8:130923200-130941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:130924800-130946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:130926000-130944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:130926800-130944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:130929200-130950600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:130929400-130944200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:130929400-130949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:130929400-130950200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:130930600-130943400	Weak transcription	Hela-S3	cervix
19	chr8:130930600-130944400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:130930600-130950200	Weak transcription	Psoas Muscle	Psoas
21	chr8:130931000-130940400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:130931000-130944600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:130931000-130945200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:130933600-130944600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:130933800-130950800	Weak transcription	Aorta	Aorta
26	chr8:130934200-130950000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:130934400-130939400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:130934400-130940200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:130934400-130940400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:130934400-130949400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:130934600-130942200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:130934600-130942600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:130934600-130949400	Weak transcription	HepG2	liver
34	chr8:130934600-130950200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:130935400-130944000	Weak transcription	Fetal Intestine Small	intestine
36	chr8:130935800-130940600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:130936200-130950600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:130936400-130939400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:130936400-130945600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:130936600-130950000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:130936800-130942800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:130936800-130944200	Weak transcription	NHEK	skin
43	chr8:130936800-130950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:130937200-130939200	Strong transcription	Primary B cells from cord blood	blood
45	chr8:130937400-130945200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:130937800-130942800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:130938000-130939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:130938000-130940200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:130938000-130944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:130938000-130945400	Weak transcription	Left Ventricle	heart

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