Variant report

Variant	rs7520381
Chromosome Location	chr1:155680584-155680585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11264415	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11264418	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs12066633	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070752	1.00[AMR][1000 genomes]
rs12072627	1.00[AMR][1000 genomes]
rs12075435	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12095373	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12097744	1.00[ASW][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836999	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837068	0.85[YRI][hapmap]
rs372780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41409345	1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap]
rs58304308	0.90[AFR][1000 genomes]
rs6674865	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6692929	1.00[MEX][hapmap]
rs6702507	0.81[AFR][1000 genomes]
rs74116406	1.00[AMR][1000 genomes]
rs7523409	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7546314	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7552711	0.81[AFR][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	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155660200-155698800	Weak transcription	NHLF	lung
2	chr1:155660400-155682800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:155660400-155688800	Weak transcription	Lung	lung
4	chr1:155660400-155706200	Weak transcription	Colonic Mucosa	Colon
5	chr1:155660800-155682600	Weak transcription	Spleen	Spleen
6	chr1:155661600-155688600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:155661600-155707800	Weak transcription	HUVEC	blood vessel
8	chr1:155662200-155682000	Weak transcription	HSMMtube	muscle
9	chr1:155662400-155682800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:155662400-155685600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:155663000-155681200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:155663200-155701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:155663400-155682600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:155665200-155685800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:155665200-155708000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:155665400-155682000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:155665400-155695000	Weak transcription	Pancreas	Pancrea
18	chr1:155665400-155699000	Weak transcription	Right Ventricle	heart
19	chr1:155665600-155707200	Weak transcription	Psoas Muscle	Psoas
20	chr1:155665800-155707000	Weak transcription	Small Intestine	intestine
21	chr1:155666800-155680600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:155666800-155682600	Weak transcription	Brain Substantia Nigra	brain
23	chr1:155667000-155686800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:155667200-155681800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:155667200-155683000	Weak transcription	Brain Germinal Matrix	brain
26	chr1:155667200-155687000	Weak transcription	Brain Angular Gyrus	brain
27	chr1:155667600-155689600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:155668800-155682800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:155668800-155685600	Weak transcription	Liver	Liver
30	chr1:155669200-155702200	Weak transcription	Gastric	stomach
31	chr1:155669600-155682800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:155669800-155682600	Weak transcription	HepG2	liver
33	chr1:155671000-155682000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:155672400-155681400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:155672600-155685600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:155672800-155698800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:155673200-155695000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:155673800-155707800	Weak transcription	Aorta	Aorta
39	chr1:155674600-155682800	Weak transcription	Fetal Heart	heart
40	chr1:155674800-155685400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:155676000-155695000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:155676200-155682800	Weak transcription	NH-A	brain
43	chr1:155676200-155685400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:155676200-155685800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:155676400-155682600	Weak transcription	NHEK	skin
46	chr1:155676400-155682800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:155676400-155683000	Weak transcription	NHDF-Ad	bronchial
48	chr1:155676400-155685600	Weak transcription	HMEC	breast
49	chr1:155676400-155687000	Weak transcription	Left Ventricle	heart
50	chr1:155676400-155689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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