Variant report

Variant	rs17012532
Chromosome Location	chr4:88104969-88104970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88092783..88095680-chr4:88102912..88104979,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11931927	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937081	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12649293	0.83[YRI][hapmap]
rs17012552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6531954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531961	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6531964	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs6821399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6843703	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6844393	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6846760	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes]
rs73839119	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73839122	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7656992	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7657465	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7666055	0.82[ASN][1000 genomes]
rs7679257	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7680813	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7698284	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs7698923	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs964739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88058200-88109000	Weak transcription	Lung	lung
2	chr4:88061400-88109400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:88068000-88116400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:88073400-88113000	Weak transcription	NHDF-Ad	bronchial
5	chr4:88074200-88109400	Weak transcription	Pancreas	Pancrea
6	chr4:88077200-88111000	Weak transcription	Fetal Brain Male	brain
7	chr4:88081800-88140200	Weak transcription	Aorta	Aorta
8	chr4:88082000-88111000	Weak transcription	Brain Germinal Matrix	brain
9	chr4:88082000-88129200	Weak transcription	Esophagus	oesophagus
10	chr4:88082600-88120000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:88082800-88106400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:88083000-88116400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:88084800-88113600	Weak transcription	HSMM	muscle
14	chr4:88085000-88128000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:88086600-88109400	Weak transcription	NHLF	lung
16	chr4:88089000-88108400	Weak transcription	Gastric	stomach
17	chr4:88089600-88113600	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:88089600-88131000	Weak transcription	Ovary	ovary
19	chr4:88089800-88106400	Weak transcription	GM12878-XiMat	blood
20	chr4:88089800-88115800	Weak transcription	HepG2	liver
21	chr4:88090000-88107800	Weak transcription	Placenta	Placenta
22	chr4:88090000-88118200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:88091200-88111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:88091400-88109000	Weak transcription	Fetal Lung	lung
25	chr4:88091400-88118200	Weak transcription	Brain Anterior Caudate	brain
26	chr4:88091800-88106600	Weak transcription	Right Ventricle	heart
27	chr4:88091800-88107600	Weak transcription	Thymus	Thymus
28	chr4:88091800-88115000	Weak transcription	Left Ventricle	heart
29	chr4:88091800-88128000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:88091800-88128600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:88091800-88133600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:88092200-88134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:88093000-88113200	Weak transcription	K562	blood
34	chr4:88093800-88113400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:88093800-88119600	Weak transcription	Primary T cells from cord blood	blood
36	chr4:88096800-88115400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:88097600-88110200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:88097600-88125200	Weak transcription	Primary B cells from cord blood	blood
39	chr4:88097600-88140400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:88098000-88114800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:88098000-88127400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:88098400-88110200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:88098800-88115600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:88099000-88109400	Weak transcription	Liver	Liver
45	chr4:88099000-88118400	Weak transcription	Fetal Intestine Large	intestine
46	chr4:88099200-88110200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:88099800-88115200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:88100400-88119200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:88102000-88109400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:88102400-88110600	Weak transcription	Fetal Intestine Small	intestine

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