Variant report

Variant	rs10017282
Chromosome Location	chr4:88347368-88347369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88342302..88345638-chr4:88345920..88348886,5	K562	blood:
2	chr4:88345779..88348484-chr4:88376364..88379281,2	K562	blood:
3	chr4:88342695..88344657-chr4:88345813..88347482,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170502	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10008963	0.90[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10009776	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10015443	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10034240	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213468	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097151	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13119798	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13122902	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28439403	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4388049	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6531987	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6531988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6531994	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6531995	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6531997	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67796586	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6816136	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6847168	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7666886	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673045	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695235	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9307036	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9968511	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88344400-88398600	Weak transcription	Gastric	stomach
2	chr4:88344600-88356200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:88344600-88356200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:88345200-88356200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:88345200-88356200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr4:88345200-88356800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:88345200-88362800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:88345200-88363000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:88345200-88400000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:88345200-88416400	Weak transcription	Colonic Mucosa	Colon
11	chr4:88345400-88351800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:88345400-88356000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:88345400-88356000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:88345400-88356000	Weak transcription	Fetal Stomach	stomach
15	chr4:88345400-88356200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:88345400-88356200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:88345400-88356200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:88345400-88356200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:88345400-88356200	Weak transcription	Adipose Nuclei	Adipose
20	chr4:88345400-88356800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:88345400-88357200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:88345400-88357600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:88345400-88359400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:88345400-88359400	Weak transcription	Fetal Thymus	thymus
25	chr4:88345400-88361400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:88345400-88363400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:88345400-88372400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:88345400-88378800	Weak transcription	A549	lung
29	chr4:88345600-88354400	Weak transcription	Fetal Lung	lung
30	chr4:88345600-88357000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:88345800-88348200	Enhancers	Pancreas	Pancrea
32	chr4:88345800-88356800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:88345800-88356800	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:88345800-88357200	Weak transcription	Left Ventricle	heart
35	chr4:88345800-88357400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:88345800-88360800	Weak transcription	Brain Anterior Caudate	brain
37	chr4:88345800-88363400	Weak transcription	Right Ventricle	heart
38	chr4:88345800-88372200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:88346000-88347600	Enhancers	Dnd41	blood
40	chr4:88346000-88348400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:88346000-88351400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:88346000-88352400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:88346000-88352600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:88346000-88353000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:88346000-88356200	Weak transcription	Primary T cells from cord blood	blood
46	chr4:88346000-88359400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:88346000-88359400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:88346000-88363200	Weak transcription	Primary B cells from cord blood	blood
49	chr4:88346000-88364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:88346200-88347400	Weak transcription	Fetal Kidney	kidney

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