Variant report

Variant	rs17026978
Chromosome Location	chr4:151493601-151493602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151492559..151495531-chr4:151941599..151944271,2	K562	blood:
2	chr4:151485955..151488684-chr4:151492504..151494572,2	K562	blood:
3	chr4:151491888..151494429-chr4:151494545..151497741,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10003085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10009219	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10017937	0.86[EUR][1000 genomes]
rs10021103	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10026518	0.82[EUR][1000 genomes]
rs10027582	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10034965	0.86[EUR][1000 genomes]
rs10213297	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11099767	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11099768	0.87[ASN][1000 genomes]
rs12500679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12505123	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1504782	0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17026968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28360888	0.81[ASN][1000 genomes]
rs28367335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28373637	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28405183	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28447376	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28501240	0.86[EUR][1000 genomes]
rs28533051	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28539520	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28540258	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28580527	0.85[ASN][1000 genomes]
rs28639783	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28641948	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28643547	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28797934	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28802622	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3922785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4260528	0.81[ASN][1000 genomes]
rs4336207	1.00[CEU][hapmap]
rs4419456	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59515357	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61520262	0.86[AMR][1000 genomes]
rs61655905	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6813081	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6832909	0.82[EUR][1000 genomes]
rs6843987	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6847441	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6849364	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6856287	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6858706	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72955894	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72957852	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72957869	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72957890	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72959804	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7655913	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7659148	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7674390	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7691319	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7691594	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7699621	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7699721	0.91[ASN][1000 genomes]
rs9307878	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9761873	0.85[ASN][1000 genomes]
rs9884181	1.00[CEU][hapmap]
rs9968356	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1018942	chr4:151423295-151556444	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv537301	chr4:151423295-151556444	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv4547	chr4:151486280-151531479	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17026978	RPS3A	cis	Thyroid	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151470400-151503600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr4:151472000-151501400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:151472600-151500200	Weak transcription	Aorta	Aorta
4	chr4:151477200-151502400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:151479400-151500800	Weak transcription	Lung	lung
6	chr4:151479600-151501800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:151480600-151500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:151481200-151500400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:151486600-151493800	Weak transcription	Pancreas	Pancrea
10	chr4:151486600-151494000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:151486600-151494000	Weak transcription	Left Ventricle	heart
12	chr4:151486600-151499800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:151486600-151500000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:151486600-151500000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:151486600-151500200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:151486600-151500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:151486600-151503200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:151486600-151510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:151487000-151502400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:151487000-151503200	Weak transcription	Primary B cells from cord blood	blood
21	chr4:151487200-151494000	Weak transcription	Fetal Intestine Small	intestine
22	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:151487400-151494200	Weak transcription	Fetal Intestine Large	intestine
24	chr4:151488400-151494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:151490400-151494000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:151490800-151494000	Weak transcription	Gastric	stomach
27	chr4:151490800-151499000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:151490800-151503800	Weak transcription	HMEC	breast
29	chr4:151491000-151494600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:151491200-151494000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:151491200-151494400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:151491200-151494400	Weak transcription	NH-A	brain
33	chr4:151491200-151494600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:151491200-151499000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:151491600-151494600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:151491600-151499800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:151491600-151500000	Weak transcription	HSMM	muscle
38	chr4:151491600-151501400	Weak transcription	Primary T cells from cord blood	blood
39	chr4:151491800-151494400	Weak transcription	Osteobl	bone
40	chr4:151491800-151494600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:151492200-151500400	Weak transcription	Esophagus	oesophagus
42	chr4:151492400-151493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:151492400-151493800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:151492600-151493800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:151492800-151494000	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:151492800-151494000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:151493400-151493800	Active TSS	K562	blood
48	chr4:151493600-151496200	Enhancers	A549	lung

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