Variant report

Variant	rs17060428
Chromosome Location	chr4:175167253-175167254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175162287..175164616-chr4:175167133..175169493,3	K562	blood:
2	chr4:175166567..175169450-chr4:175175425..175177683,2	K562	blood:
3	chr4:175157100..175158801-chr4:175165642..175167350,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10434410	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520278	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10520279	0.82[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13122347	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13134635	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13137178	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1396193	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060395	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17060404	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17060454	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35190385	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35593724	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35689614	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs36081616	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62335793	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62335798	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6553781	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs66919862	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6840664	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72621998	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7671444	0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7684619	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7696841	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs906569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs906570	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs954927	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9715080	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
2	chr4:175151400-175192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:175151800-175169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:175151800-175181600	Weak transcription	Brain Angular Gyrus	brain
5	chr4:175152600-175169400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:175152600-175176400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:175153000-175174200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:175153200-175169000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:175153200-175174600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:175153200-175184000	Weak transcription	Lung	lung
11	chr4:175153400-175191600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
13	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
14	chr4:175154400-175186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:175154400-175202400	Weak transcription	Gastric	stomach
16	chr4:175155400-175185000	Weak transcription	Spleen	Spleen
17	chr4:175155600-175177000	Weak transcription	Fetal Kidney	kidney
18	chr4:175155600-175178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:175155800-175186600	Weak transcription	Fetal Brain Female	brain
20	chr4:175156200-175169600	Weak transcription	HSMMtube	muscle
21	chr4:175156200-175174400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:175156200-175174400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:175156600-175181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:175156800-175177000	Weak transcription	Brain Substantia Nigra	brain
25	chr4:175156800-175183400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:175157000-175179600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:175157000-175181400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:175157000-175184000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:175158800-175176200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:175158800-175178600	Weak transcription	Left Ventricle	heart
31	chr4:175158800-175202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:175159000-175177000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:175159000-175177000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:175159000-175178600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:175159000-175178600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:175159000-175180400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:175159000-175184000	Weak transcription	Ovary	ovary
38	chr4:175159000-175184200	Weak transcription	Fetal Lung	lung
39	chr4:175159600-175178400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:175159800-175199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:175160200-175177000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:175160400-175176800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:175160400-175178600	Weak transcription	Fetal Intestine Large	intestine
44	chr4:175160800-175176800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:175161000-175178600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:175161000-175192400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:175161200-175177200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:175161200-175178600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:175161600-175177800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:175161600-175178400	Weak transcription	Liver	Liver

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