Variant report

Variant	rs1045817
Chromosome Location	chr4:119201587-119201588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:119200552..119202977-chr4:119264974..119267166,2	MCF-7	breast:
2	chr4:119201136..119203299-chr4:119229630..119231943,2	MCF-7	breast:
3	chr4:119200823..119203757-chr4:119253741..119255718,2	K562	blood:
4	chr13:21475077..21476776-chr4:119200558..119202187,2	MCF-7	breast:
5	chr4:119199845..119203643-chr4:119232853..119237501,6	K562	blood:
6	chr4:119200823..119205436-chr4:119252231..119259407,8	K562	blood:
7	chr4:119199692..119204423-chr4:119272219..119275323,9	MCF-7	breast:
8	chr4:119201396..119202987-chr4:119255869..119257846,2	MCF-7	breast:
9	chr4:119199307..119202288-chr4:119603050..119607934,6	MCF-7	breast:
10	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
11	chr4:116021774..116024310-chr4:119200691..119202640,2	MCF-7	breast:
12	chr4:117758900..117760975-chr4:119201359..119203236,2	MCF-7	breast:
13	chr4:119200744..119202697-chr4:119249300..119251845,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145388	Chromatin interaction
ENSG00000201752	Chromatin interaction
ENSG00000164099	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10001926	0.81[ASN][1000 genomes]
rs10002634	0.93[ASN][1000 genomes]
rs10008013	0.93[ASN][1000 genomes]
rs10014055	0.93[ASN][1000 genomes]
rs10014957	0.93[ASN][1000 genomes]
rs10016206	0.93[ASN][1000 genomes]
rs10016301	0.90[ASN][1000 genomes]
rs10018844	0.93[ASN][1000 genomes]
rs10024837	0.93[ASN][1000 genomes]
rs10025690	0.93[ASN][1000 genomes]
rs10033927	0.93[ASN][1000 genomes]
rs10213280	0.93[ASN][1000 genomes]
rs1028091	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11721634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11723877	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11723996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726746	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11726838	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11727684	0.93[ASN][1000 genomes]
rs11727817	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11728941	0.93[ASN][1000 genomes]
rs11730327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11730687	0.93[ASN][1000 genomes]
rs11731179	0.86[ASN][1000 genomes]
rs11734145	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930782	0.93[ASN][1000 genomes]
rs11933280	0.93[ASN][1000 genomes]
rs11934183	0.93[ASN][1000 genomes]
rs11944227	0.93[ASN][1000 genomes]
rs11945329	0.93[ASN][1000 genomes]
rs11945537	0.93[ASN][1000 genomes]
rs11945882	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11947244	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11947630	0.93[ASN][1000 genomes]
rs13114867	0.90[ASN][1000 genomes]
rs13129847	0.90[ASN][1000 genomes]
rs13435006	0.93[ASN][1000 genomes]
rs1403845	0.93[ASN][1000 genomes]
rs1403846	0.93[ASN][1000 genomes]
rs1523744	0.93[ASN][1000 genomes]
rs1523745	0.93[ASN][1000 genomes]
rs1523746	0.93[ASN][1000 genomes]
rs1589718	0.90[ASN][1000 genomes]
rs17515832	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17516430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17516450	1.00[CHB][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap]
rs17516575	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs17594054	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17594243	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1996725	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2030633	0.93[ASN][1000 genomes]
rs2030634	0.93[ASN][1000 genomes]
rs2204269	0.93[ASN][1000 genomes]
rs2271577	0.93[ASN][1000 genomes]
rs2271578	0.93[ASN][1000 genomes]
rs2272160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28396217	0.93[ASN][1000 genomes]
rs28508556	0.93[ASN][1000 genomes]
rs28661939	1.00[CEU][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805195	1.00[CHB][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap]
rs3817274	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4546315	0.93[ASN][1000 genomes]
rs56007507	0.93[ASN][1000 genomes]
rs56258393	0.93[ASN][1000 genomes]
rs56305917	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56339949	0.93[ASN][1000 genomes]
rs56390335	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57605165	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58798110	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60858456	0.86[ASN][1000 genomes]
rs61342457	0.93[ASN][1000 genomes]
rs61443542	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62326151	0.93[ASN][1000 genomes]
rs6534088	0.86[ASN][1000 genomes]
rs6822408	0.86[ASN][1000 genomes]
rs6822996	0.93[ASN][1000 genomes]
rs6842372	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6842689	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6853304	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6853879	0.90[ASN][1000 genomes]
rs6855052	0.93[ASN][1000 genomes]
rs6855536	0.84[ASN][1000 genomes]
rs6856076	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71608347	0.90[ASN][1000 genomes]
rs71608349	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72907147	0.86[ASN][1000 genomes]
rs72907175	0.86[ASN][1000 genomes]
rs72909175	0.93[ASN][1000 genomes]
rs72909186	0.93[ASN][1000 genomes]
rs72917104	0.93[ASN][1000 genomes]
rs72917146	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72917175	0.93[ASN][1000 genomes]
rs72917179	0.93[ASN][1000 genomes]
rs7661522	0.90[ASN][1000 genomes]
rs7685455	0.93[ASN][1000 genomes]
rs9992827	0.90[ASN][1000 genomes]
rs9996753	0.93[ASN][1000 genomes]
rs9996762	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1045817	SNHG8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119199000-119201600	Active TSS	Colonic Mucosa	Colon
2	chr4:119199000-119201600	Active TSS	Psoas Muscle	Psoas
3	chr4:119199000-119202000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:119199000-119202000	Active TSS	Fetal Stomach	stomach
5	chr4:119199000-119202200	Active TSS	Thymus	Thymus
6	chr4:119199200-119201600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:119199200-119201800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:119199200-119202000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:119199200-119202200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:119199200-119202200	Active TSS	Right Atrium	heart
11	chr4:119199200-119202600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:119199200-119202600	Active TSS	Right Ventricle	heart
13	chr4:119199400-119201800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:119199400-119201800	Active TSS	Fetal Intestine Small	intestine
15	chr4:119200000-119201600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr4:119200000-119201800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:119200000-119202000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr4:119200000-119202400	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr4:119200200-119201600	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
20	chr4:119200200-119202200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
21	chr4:119200200-119202200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
22	chr4:119200200-119202200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
23	chr4:119200200-119202200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
24	chr4:119200200-119202400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
25	chr4:119200200-119202600	Transcr. at gene 5' and 3'	A549	lung
26	chr4:119200200-119202600	Transcr. at gene 5' and 3'	NHEK	skin
27	chr4:119200200-119203400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
28	chr4:119200400-119201600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
29	chr4:119200400-119201600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr4:119200400-119201800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr4:119200400-119202000	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:119200400-119202200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:119200400-119202200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
34	chr4:119200400-119202400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
35	chr4:119200400-119202400	Transcr. at gene 5' and 3'	HMEC	breast
36	chr4:119200400-119202600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:119200400-119202800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:119200400-119202800	Transcr. at gene 5' and 3'	Osteobl	bone
39	chr4:119200400-119203400	Transcr. at gene 5' and 3'	K562	blood
40	chr4:119200600-119201600	Transcr. at gene 5' and 3'	Hela-S3	cervix
41	chr4:119200600-119201800	Transcr. at gene 5' and 3'	HSMM	muscle
42	chr4:119200600-119202200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
43	chr4:119200600-119202200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:119200600-119202200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr4:119200600-119202200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr4:119200600-119202600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:119200600-119202600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
48	chr4:119200600-119202600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:119200600-119202800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
50	chr4:119200600-119203000	Transcr. at gene 5' and 3'	NH-A	brain

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