Variant report

Variant	rs1468701
Chromosome Location	chr7:127546472-127546473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127540563..127543536-chr7:127545716..127548575,3	K562	blood:
2	chr7:127544913..127546736-chr7:127548351..127550204,2	K562	blood:
3	chr7:127545052..127549084-chr7:127551154..127554840,4	K562	blood:
4	chr7:127539496..127544017-chr7:127546415..127549727,4	MCF-7	breast:
5	chr7:127545052..127549084-chr7:127550970..127554840,5	K562	blood:
6	chr7:127541840..127544153-chr7:127545311..127547804,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1019578	0.85[ASN][1000 genomes]
rs10228031	0.85[ASN][1000 genomes]
rs1025075	0.85[ASN][1000 genomes]
rs10487499	0.97[EUR][1000 genomes]
rs10487502	0.86[EUR][1000 genomes]
rs1073155	1.00[JPT][hapmap]
rs12154492	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12375023	0.97[EUR][1000 genomes]
rs12531847	0.97[EUR][1000 genomes]
rs12532894	0.86[EUR][1000 genomes]
rs12534918	0.86[EUR][1000 genomes]
rs12536253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12540357	0.84[EUR][1000 genomes]
rs12706816	0.98[EUR][1000 genomes]
rs12706818	0.99[EUR][1000 genomes]
rs12706819	0.99[EUR][1000 genomes]
rs12706820	0.99[EUR][1000 genomes]
rs12706821	1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs12706822	0.97[EUR][1000 genomes]
rs12706823	0.96[EUR][1000 genomes]
rs13221709	0.84[EUR][1000 genomes]
rs13227201	0.95[EUR][1000 genomes]
rs13229973	0.99[EUR][1000 genomes]
rs13231367	0.99[EUR][1000 genomes]
rs13236338	1.00[CEU][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs13238924	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13246200	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs13246286	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1345283	0.85[EUR][1000 genomes]
rs1348103	0.92[EUR][1000 genomes]
rs1362898	0.81[EUR][1000 genomes]
rs1419970	1.00[CEU][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes]
rs1440973	0.85[ASN][1000 genomes]
rs1468702	1.00[JPT][hapmap]
rs17151466	1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs17151488	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17151507	1.00[CEU][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes]
rs17151515	0.90[ASN][1000 genomes]
rs17151567	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17151639	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17151650	1.00[JPT][hapmap]
rs17151653	0.84[EUR][1000 genomes]
rs17151668	0.89[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs17151707	0.85[GIH][hapmap]
rs1833146	0.85[ASN][1000 genomes]
rs2402873	1.00[JPT][hapmap]
rs325438	0.85[ASN][1000 genomes]
rs325439	0.85[ASN][1000 genomes]
rs325443	0.85[ASN][1000 genomes]
rs325448	0.85[ASN][1000 genomes]
rs325449	0.85[ASN][1000 genomes]
rs325450	0.85[ASN][1000 genomes]
rs34026100	0.98[EUR][1000 genomes]
rs34688920	0.85[EUR][1000 genomes]
rs34839191	0.87[EUR][1000 genomes]
rs35154268	0.98[EUR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs41464647	1.00[CEU][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap]
rs4728078	0.85[ASN][1000 genomes]
rs4728082	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4731379	0.85[ASN][1000 genomes]
rs4731382	0.85[ASN][1000 genomes]
rs4731383	0.85[ASN][1000 genomes]
rs4731384	0.85[ASN][1000 genomes]
rs4731390	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs4731391	1.00[JPT][hapmap]
rs55660321	0.95[EUR][1000 genomes]
rs58406876	0.90[EUR][1000 genomes]
rs6467142	0.85[ASN][1000 genomes]
rs6467146	0.85[ASN][1000 genomes]
rs6467147	0.85[ASN][1000 genomes]
rs6467149	0.85[ASN][1000 genomes]
rs6467150	0.85[ASN][1000 genomes]
rs6467151	0.85[ASN][1000 genomes]
rs6467154	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs67632185	0.85[EUR][1000 genomes]
rs67827668	0.99[EUR][1000 genomes]
rs6948605	0.82[EUR][1000 genomes]
rs6950211	0.85[ASN][1000 genomes]
rs6953231	0.86[TSI][hapmap]
rs6953530	1.00[JPT][hapmap]
rs6959487	0.92[EUR][1000 genomes]
rs6962635	0.85[GIH][hapmap];0.86[TSI][hapmap]
rs6964714	0.90[ASN][1000 genomes]
rs6972398	0.90[ASN][1000 genomes]
rs6976145	1.00[JPT][hapmap]
rs6979918	0.85[ASN][1000 genomes]
rs698409	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs712720	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs73232968	0.86[EUR][1000 genomes]
rs73232972	0.82[EUR][1000 genomes]
rs73234873	0.85[EUR][1000 genomes]
rs73234874	0.84[EUR][1000 genomes]
rs741094	1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs7458839	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7785596	0.95[EUR][1000 genomes]
rs7791000	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7794303	0.90[ASN][1000 genomes]
rs7794328	0.90[ASN][1000 genomes]
rs7805021	0.89[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs7809182	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810024	0.99[EUR][1000 genomes]
rs894062	0.85[EUR][1000 genomes]
rs9649027	0.90[EUR][1000 genomes]
rs9649512	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1468701	ARF5	cis	cerebellum	SCAN
rs1468701	SND1	cis	Artery Tibial	GTEx
rs1468701	GPR37	cis	cerebellum	SCAN
rs1468701	HYAL4	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
3	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
4	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
7	chr7:127532400-127547400	Weak transcription	A549	lung
8	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:127539000-127556400	Weak transcription	Psoas Muscle	Psoas
10	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
12	chr7:127541400-127550800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:127542600-127546600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:127542600-127547400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:127542600-127547400	Weak transcription	Fetal Kidney	kidney
16	chr7:127542600-127553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:127542600-127553000	Weak transcription	Ovary	ovary
18	chr7:127542600-127553400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:127542800-127552800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:127542800-127554200	Weak transcription	Gastric	stomach
21	chr7:127543400-127549200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:127543600-127551400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:127544000-127546600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:127544000-127547000	Enhancers	HMEC	breast
25	chr7:127544000-127547000	Strong transcription	K562	blood
26	chr7:127544000-127547200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:127544000-127548400	Genic enhancers	GM12878-XiMat	blood
28	chr7:127544000-127549000	Enhancers	HepG2	liver
29	chr7:127544000-127549600	Enhancers	Fetal Intestine Small	intestine
30	chr7:127544200-127546800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:127544200-127551000	Weak transcription	Spleen	Spleen
32	chr7:127544400-127546600	Enhancers	HUVEC	blood vessel
33	chr7:127544600-127546800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:127544600-127548200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:127544600-127551400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr7:127544800-127547000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:127544800-127551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:127544800-127554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:127544800-127560600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:127545000-127547400	Weak transcription	Brain Germinal Matrix	brain
41	chr7:127545000-127547600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:127545000-127549400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr7:127545000-127550800	Weak transcription	Fetal Brain Male	brain
44	chr7:127545000-127569200	Weak transcription	Thymus	Thymus
45	chr7:127545000-127569200	Weak transcription	HSMMtube	muscle
46	chr7:127545200-127547400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:127545200-127548000	Strong transcription	Primary B cells from cord blood	blood
48	chr7:127545200-127550800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:127545200-127552400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:127545400-127546800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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