Variant report

Variant	rs1768808
Chromosome Location	chr1:46503217-46503218
allele	A/G
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46495760..46499404-chr1:46501029..46505549,6	K562	blood:
2	chr1:46502434..46503605-chr1:46644931..46645927,6	MCF-7	breast:
3	chr1:46502035..46506029-chr1:46661019..46664447,3	K562	blood:
4	chr1:46502496..46503477-chr1:46663439..46664734,4	K562	blood:
5	chr1:46502754..46504889-chr1:46644727..46646775,2	MCF-7	breast:
6	chr1:46502630..46503505-chr1:46596675..46597385,2	Hela-S3	cervix:
7	chr1:46501684..46503933-chr1:46638611..46640285,2	K562	blood:
8	chr1:46500117..46505906-chr1:46642218..46647717,9	K562	blood:
9	chr1:46502577..46505104-chr1:46641214..46645319,3	MCF-7	breast:
10	chr1:46502476..46504695-chr1:46767882..46770571,2	K562	blood:
11	chr1:46501987..46504531-chr1:46644237..46646306,43	K562	blood:
12	chr1:46501151..46503873-chr1:46689820..46692443,2	MCF-7	breast:
13	chr1:46502781..46503507-chr1:46643468..46644085,2	K562	blood:
14	chr1:46502035..46504255-chr1:46662505..46664043,2	K562	blood:
15	chr1:46502426..46503494-chr1:46644975..46645543,3	MCF-7	breast:
16	chr1:46502375..46504805-chr1:46664271..46665927,2	K562	blood:
17	chr1:46502978..46504881-chr1:46688059..46689994,2	K562	blood:
18	chr1:46501155..46503229-chr1:46711979..46714694,2	K562	blood:
19	chr1:46493789..46494398-chr1:46502594..46503341,2	K562	blood:
20	chr1:46502105..46504084-chr1:46528170..46530129,2	K562	blood:
21	chr1:46502151..46503328-chr1:46688941..46690179,5	K562	blood:
22	chr1:46501521..46503992-chr1:46598593..46600286,2	K562	blood:
23	chr1:46501257..46504423-chr1:46594631..46599309,4	MCF-7	breast:
24	chr1:46500166..46508245-chr1:46642169..46649663,17	K562	blood:
25	chr1:46499846..46501821-chr1:46501905..46505233,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227857	Chromatin interaction
ENSG00000132128	Chromatin interaction
ENSG00000250719	Chromatin interaction
ENSG00000085998	Chromatin interaction
ENSG00000117461	Chromatin interaction
ENSG00000085999	Chromatin interaction
ENSG00000117472	Chromatin interaction
ENSG00000173660	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10732844	0.81[CEU][hapmap]
rs10789485	0.81[CEU][hapmap];0.84[GIH][hapmap];0.80[MKK][hapmap]
rs10789486	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs10890355	0.81[CEU][hapmap]
rs10890365	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs10890370	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs10890371	0.81[CEU][hapmap]
rs10890373	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs10890378	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs10890380	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs10890381	0.81[CEU][hapmap];0.87[GIH][hapmap];0.83[MKK][hapmap]
rs10890382	0.81[CEU][hapmap]
rs11211204	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs11211217	0.81[CEU][hapmap]
rs11211219	0.81[CEU][hapmap]
rs11211223	0.81[CEU][hapmap]
rs11211228	0.81[CEU][hapmap]
rs11211232	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs11211235	0.81[CEU][hapmap]
rs11211236	0.81[CEU][hapmap]
rs11211239	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs11211243	0.81[CEU][hapmap]
rs11211248	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs12022335	0.81[CEU][hapmap]
rs12133129	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs1613296	0.81[CEU][hapmap];0.89[GIH][hapmap]
rs1622208	0.81[CEU][hapmap];0.87[GIH][hapmap];0.89[MKK][hapmap]
rs1707303	0.81[CEU][hapmap];0.80[GIH][hapmap]
rs1707322	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs1707337	0.81[CEU][hapmap]
rs1768801	0.84[CEU][hapmap]
rs1768802	0.81[CEU][hapmap];0.80[GIH][hapmap]
rs1768807	0.81[CEU][hapmap]
rs1768817	0.81[CEU][hapmap]
rs2458400	0.81[CEU][hapmap]
rs4073847	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs4074225	0.81[CEU][hapmap]
rs4134387	0.81[CEU][hapmap]
rs4298677	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs4454479	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs4660318	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs4660328	0.81[CEU][hapmap]
rs4660334	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs4660896	0.81[CEU][hapmap]
rs4660900	0.81[CEU][hapmap]
rs4660905	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs6429588	0.81[CEU][hapmap]
rs6661500	0.80[CEU][hapmap]
rs6675222	0.81[CEU][hapmap]
rs6675259	0.80[CEU][hapmap]
rs6677777	0.84[GIH][hapmap]
rs6681068	0.80[CEU][hapmap]
rs6682683	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs6687301	0.81[CEU][hapmap]
rs7512395	0.81[CEU][hapmap]
rs7526369	0.81[CEU][hapmap]
rs7527244	0.81[CEU][hapmap]
rs7531911	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs7538978	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs7547284	0.81[CEU][hapmap]
rs785465	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs785467	0.81[CEU][hapmap]
rs785468	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs785478	0.81[CEU][hapmap]
rs785480	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs785484	0.81[CEU][hapmap];0.87[GIH][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap]
rs785490	0.81[CEU][hapmap]
rs785493	0.81[CEU][hapmap]
rs785497	0.81[CEU][hapmap]
rs785504	0.81[CEU][hapmap]
rs785506	0.81[CEU][hapmap]
rs785510	0.81[CEU][hapmap]
rs785512	0.84[CEU][hapmap];0.87[GIH][hapmap]
rs946524	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs946527	0.87[GIH][hapmap]
rs9787412	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1003517	chr1:46244432-46609881	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1009527	chr1:46286329-46520127	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1009474	chr1:46320433-46557734	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv829737	chr1:46352900-46506424	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1000557	chr1:46383876-46591182	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv2754420	chr1:46461580-46635180	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	esv1795204	chr1:46466373-46504466	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
14	esv1829371	chr1:46466373-46504466	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
15	nsv1007750	chr1:46471293-46552564	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
17	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1768808	IPP	cis	lymphoblastoid	seeQTL
rs1768808	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs1768808	Hs.396207	cis	multi-tissue	Pritchard
rs1768808	GPBP1L1	cis	Lymphoblastoid	GTEx
rs1768808	GPBP1L1	cis	Muscle Skeletal	GTEx
rs1768808	CYP4Z2P	cis	cerebellum	SCAN
rs1768808	CMPK1	cis	cerebellum	SCAN
rs1768808	IPO13	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46475600-46525000	Weak transcription	Fetal Kidney	kidney
2	chr1:46476600-46515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:46488800-46505200	Weak transcription	HMEC	breast
4	chr1:46490200-46524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:46490600-46505000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:46490600-46525200	Weak transcription	NH-A	brain
7	chr1:46492000-46507600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:46493000-46509200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:46494200-46505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:46495800-46505000	Weak transcription	HUVEC	blood vessel
11	chr1:46496000-46508600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:46496200-46505400	Weak transcription	Small Intestine	intestine
13	chr1:46497400-46506600	Weak transcription	Fetal Thymus	thymus
14	chr1:46497600-46506800	Weak transcription	Primary B cells from cord blood	blood
15	chr1:46498000-46528200	Weak transcription	Osteobl	bone
16	chr1:46498200-46528400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:46498400-46505200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:46498400-46505400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:46498400-46505400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:46498400-46506000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:46498400-46509000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:46498600-46504600	Weak transcription	Psoas Muscle	Psoas
23	chr1:46498600-46505000	Weak transcription	GM12878-XiMat	blood
24	chr1:46498600-46505200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:46498600-46505200	Weak transcription	Fetal Lung	lung
26	chr1:46498600-46505200	Weak transcription	NHEK	skin
27	chr1:46498600-46507600	Weak transcription	Primary T cells from cord blood	blood
28	chr1:46498600-46507800	Weak transcription	Fetal Brain Male	brain
29	chr1:46498600-46508400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:46499400-46503600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:46499600-46506400	Weak transcription	HSMM	muscle
32	chr1:46500400-46509200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:46500600-46508600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:46500600-46508800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:46500800-46506200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:46501000-46505600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:46501000-46508800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:46501000-46509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:46501000-46525200	Weak transcription	Gastric	stomach
40	chr1:46501200-46505200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:46501200-46507400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:46501200-46507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:46501200-46507800	Weak transcription	NHLF	lung
44	chr1:46501400-46505000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:46501400-46505000	Weak transcription	Dnd41	blood
46	chr1:46501400-46505200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:46501400-46506200	Weak transcription	Lung	lung
48	chr1:46501400-46508800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:46501400-46548200	Weak transcription	Aorta	Aorta
50	chr1:46501600-46505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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