Variant report

Variant	rs6595800
Chromosome Location	chr5:127411647-127411648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127404446..127408379-chr5:127410147..127413224,3	MCF-7	breast:
2	chr5:127410989..127412593-chr5:127415197..127417314,3	K562	blood:
3	chr5:127394903..127397902-chr5:127411158..127414826,3	K562	blood:
4	chr5:127405958..127407674-chr5:127410063..127411683,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10045113	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10045307	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10057122	0.82[AMR][1000 genomes]
rs10059867	0.81[AMR][1000 genomes]
rs10060181	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10060390	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10061367	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10064098	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10064357	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10089	0.95[CEU][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap]
rs1012851	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10223203	0.82[AMR][1000 genomes]
rs1036171	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10463838	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs10478796	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10478798	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10478803	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11957052	0.80[AMR][1000 genomes]
rs13355233	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13356473	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13357268	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13358455	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1368270	0.84[CHB][hapmap]
rs1432614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559263	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes]
rs1560636	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17164310	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.81[ASN][1000 genomes]
rs17164427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17764954	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1842006	0.94[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1864922	0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1864923	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1962291	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1985268	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016015	0.82[AMR][1000 genomes]
rs2054444	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.81[ASN][1000 genomes]
rs2190797	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228112	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2409109	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2898096	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087889	0.95[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes]
rs35212223	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3792866	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3805606	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3805607	0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3805612	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs3805615	0.95[CEU][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes]
rs3816006	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4835939	0.85[CHB][hapmap]
rs4835940	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835941	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835942	0.81[GIH][hapmap];0.87[MEX][hapmap]
rs4835943	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4835944	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap]
rs4835945	0.81[AMR][1000 genomes]
rs4836358	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836359	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836360	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836361	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836363	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4836366	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4836367	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4836368	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836369	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836370	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56066100	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58433932	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60964984	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62373701	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595798	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595806	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6862701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6873339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6879970	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6887847	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72794396	0.81[ASN][1000 genomes]
rs72794400	0.82[AMR][1000 genomes]
rs736969	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs758179	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7703634	0.95[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes]
rs7713860	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7718286	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7732599	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs883074	0.85[CEU][hapmap];0.95[CHB][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.84[MKK][hapmap]
rs891886	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9968597	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3468549	chr5:127405453-127412851	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3520428	chr5:127406203-127412201	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3468544	chr5:127406478-127412226	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3520427	chr5:127406553-127412151	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2614945	chr5:127406616-127411765	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3527607	chr5:127406703-127421401	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv3527608	chr5:127406703-127421401	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	esv2456372	chr5:127406783-127411822	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv435819	chr5:127406873-127412452	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1812864	chr5:127408921-127427533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv599678	chr5:127409159-127418738	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv599683	chr5:127409374-127418738	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv599695	chr5:127409804-127418738	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6595800	FBN2	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
2	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:127374600-127418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:127375200-127414400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:127376400-127414400	Weak transcription	Dnd41	blood
6	chr5:127377200-127414200	Weak transcription	K562	blood
7	chr5:127378000-127416600	Weak transcription	Spleen	Spleen
8	chr5:127378400-127414200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:127378800-127415800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:127379000-127417400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:127380200-127414600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:127380200-127416200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:127386400-127414400	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:127386600-127417000	Weak transcription	Adipose Nuclei	Adipose
15	chr5:127389200-127414400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:127389400-127414600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:127389600-127417000	Weak transcription	Fetal Heart	heart
18	chr5:127389800-127416200	Weak transcription	Thymus	Thymus
19	chr5:127390200-127415400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:127390200-127417600	Weak transcription	Psoas Muscle	Psoas
21	chr5:127390400-127414200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:127390400-127416600	Weak transcription	Fetal Stomach	stomach
23	chr5:127390600-127415000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:127391000-127417600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:127391200-127414400	Weak transcription	A549	lung
26	chr5:127391400-127414800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:127391400-127416600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:127392200-127414400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:127394200-127418000	Weak transcription	Lung	lung
30	chr5:127394600-127416800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:127396000-127417000	Weak transcription	Ovary	ovary
32	chr5:127396200-127416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:127396400-127413000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:127396400-127414400	Weak transcription	Primary T cells from cord blood	blood
35	chr5:127398200-127416200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:127398400-127414400	Weak transcription	NHDF-Ad	bronchial
37	chr5:127398400-127414600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:127398400-127415800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:127398400-127416200	Weak transcription	HSMMtube	muscle
40	chr5:127398400-127417400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:127398600-127414400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:127398600-127416600	Weak transcription	Osteobl	bone
43	chr5:127399000-127412400	Weak transcription	HMEC	breast
44	chr5:127399000-127413000	Weak transcription	Small Intestine	intestine
45	chr5:127399000-127414400	Weak transcription	Brain Angular Gyrus	brain
46	chr5:127399000-127414400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:127399000-127415600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:127399000-127417400	Weak transcription	HSMM	muscle
49	chr5:127399200-127412400	Weak transcription	NHEK	skin
50	chr5:127399200-127414400	Weak transcription	Brain Hippocampus Middle	brain

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