Variant report

Variant	rs2072317
Chromosome Location	chr17:45007213-45007214
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	chr17:45006450..45009372-chr17:45011521..45013719,3	K562	blood:
2	chr17:45006845..45009622-chr17:45011752..45014606,5	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1052504	0.84[EUR][1000 genomes]
rs1052586	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs10853085	0.82[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs10853086	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10853087	0.81[EUR][1000 genomes]
rs11079742	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs11079744	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079745	0.83[JPT][hapmap]
rs11654971	0.85[EUR][1000 genomes]
rs11655668	0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11869840	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12601886	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1618989	0.84[EUR][1000 genomes]
rs1623402	0.84[EUR][1000 genomes]
rs1662576	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs1662577	0.84[EUR][1000 genomes]
rs1662594	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs1662596	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs1662597	0.84[EUR][1000 genomes]
rs1838105	0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1867237	0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs189899	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs197912	0.81[EUR][1000 genomes]
rs197917	0.83[EUR][1000 genomes]
rs197918	0.84[EUR][1000 genomes]
rs197919	0.84[EUR][1000 genomes]
rs197920	0.81[EUR][1000 genomes]
rs197922	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197923	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197925	0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs197926	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2191033	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs2920396	0.83[EUR][1000 genomes]
rs2920397	0.84[EUR][1000 genomes]
rs35707546	0.85[EUR][1000 genomes]
rs3785888	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs3851786	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs3885731	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3890958	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4968286	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4968288	0.80[EUR][1000 genomes]
rs61671555	0.98[ASN][1000 genomes]
rs6504622	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7213526	0.81[EUR][1000 genomes]
rs7225428	0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs7342957	0.85[EUR][1000 genomes]
rs736603	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs736604	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs758391	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs758392	0.86[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs8065527	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303532	0.98[ASN][1000 genomes]
rs9889762	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9898527	0.98[ASN][1000 genomes]
rs9898981	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs9910899	0.98[ASN][1000 genomes]
rs9911366	0.98[ASN][1000 genomes]
rs9911967	0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs9912794	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067211	chr17:44979111-45057620	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv543378	chr17:44979111-45057620	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2072317	GOSR2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45001200-45011400	Weak transcription	Fetal Brain Male	brain
2	chr17:45001400-45009400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:45001600-45008200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:45001600-45008200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:45001600-45020800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr17:45001800-45008200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:45001800-45008200	Weak transcription	HSMMtube	muscle
8	chr17:45002000-45007600	Weak transcription	Brain Substantia Nigra	brain
9	chr17:45002000-45008400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:45002000-45008400	Weak transcription	Brain Angular Gyrus	brain
11	chr17:45002000-45021000	Weak transcription	Fetal Heart	heart
12	chr17:45002200-45007600	Weak transcription	Fetal Lung	lung
13	chr17:45002200-45007600	Weak transcription	A549	lung
14	chr17:45002400-45007400	Weak transcription	Brain Anterior Caudate	brain
15	chr17:45002600-45007600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr17:45002800-45020000	Strong transcription	Fetal Muscle Leg	muscle
17	chr17:45004200-45018400	Strong transcription	Primary T cells from cord blood	blood
18	chr17:45004600-45007400	Weak transcription	Colon Smooth Muscle	Colon
19	chr17:45004800-45007600	Enhancers	HMEC	breast
20	chr17:45004800-45018200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:45005000-45007800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:45005000-45009200	Genic enhancers	Fetal Intestine Small	intestine
23	chr17:45005000-45019800	Strong transcription	GM12878-XiMat	blood
24	chr17:45005200-45008400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr17:45005200-45018000	Strong transcription	Primary B cells from cord blood	blood
26	chr17:45005200-45018800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr17:45005400-45007600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:45005400-45017800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:45005400-45018400	Strong transcription	Fetal Stomach	stomach
30	chr17:45005400-45018800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr17:45005600-45007400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:45005600-45008400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:45005600-45018600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr17:45005600-45020200	Strong transcription	Fetal Thymus	thymus
35	chr17:45005800-45007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr17:45005800-45007400	Enhancers	Fetal Intestine Large	intestine
37	chr17:45005800-45007800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:45005800-45019800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr17:45005800-45020000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr17:45006000-45007400	Weak transcription	Small Intestine	intestine
41	chr17:45006000-45007600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr17:45006000-45007600	Weak transcription	Colonic Mucosa	Colon
43	chr17:45006000-45008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:45006000-45012000	Strong transcription	K562	blood
45	chr17:45006000-45012800	Strong transcription	Hela-S3	cervix
46	chr17:45006000-45018400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr17:45006200-45008800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:45006200-45018400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr17:45006200-45018400	Strong transcription	Thymus	Thymus
50	chr17:45006200-45020000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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