Variant report

Variant	rs4731480
Chromosome Location	chr7:128190275-128190276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 35 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1003241	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10215560	0.82[ASN][1000 genomes]
rs10215566	0.82[ASN][1000 genomes]
rs10215947	0.82[ASN][1000 genomes]
rs10225988	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10227728	0.81[EUR][1000 genomes]
rs10229874	0.83[ASN][1000 genomes]
rs10237278	0.83[ASN][1000 genomes]
rs10237880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10243137	0.82[ASN][1000 genomes]
rs10247178	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10276417	0.84[EUR][1000 genomes]
rs10464537	0.84[ASN][1000 genomes]
rs10464538	0.84[ASN][1000 genomes]
rs10954193	0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1109552	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11769769	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11978608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11982561	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12667202	0.87[ASN][1000 genomes]
rs12670271	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12670432	0.83[ASN][1000 genomes]
rs12670823	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12672443	0.85[ASN][1000 genomes]
rs12673048	0.83[ASN][1000 genomes]
rs12673060	0.85[ASN][1000 genomes]
rs12674125	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12706857	0.81[EUR][1000 genomes]
rs13438170	0.83[ASN][1000 genomes]
rs1450874	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs17169024	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs17169357	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1809082	0.80[ASN][1000 genomes]
rs2290229	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2402923	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2443110	0.85[ASN][1000 genomes]
rs28505422	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3857849	0.80[ASN][1000 genomes]
rs4079003	0.80[ASN][1000 genomes]
rs4260830	0.82[ASN][1000 genomes]
rs4554406	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs4562239	0.83[ASN][1000 genomes]
rs4579449	0.83[ASN][1000 genomes]
rs4728123	0.81[ASN][1000 genomes]
rs4728128	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4728130	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4731479	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731482	0.85[ASN][1000 genomes]
rs4731484	0.86[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs4731486	0.83[ASN][1000 genomes]
rs4731488	0.80[ASN][1000 genomes]
rs4731494	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4731503	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs55660721	0.82[ASN][1000 genomes]
rs55860694	0.85[ASN][1000 genomes]
rs55982013	0.85[ASN][1000 genomes]
rs56030011	0.88[ASN][1000 genomes]
rs56033435	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56052829	0.84[ASN][1000 genomes]
rs56111366	0.85[ASN][1000 genomes]
rs56189614	0.84[ASN][1000 genomes]
rs56208431	0.82[ASN][1000 genomes]
rs56278047	0.84[ASN][1000 genomes]
rs57226192	0.84[ASN][1000 genomes]
rs57754703	0.82[ASN][1000 genomes]
rs58133562	0.85[ASN][1000 genomes]
rs59066415	0.85[ASN][1000 genomes]
rs59154282	0.84[ASN][1000 genomes]
rs59594227	0.85[ASN][1000 genomes]
rs60473286	0.84[ASN][1000 genomes]
rs60515997	0.85[ASN][1000 genomes]
rs60781570	0.82[ASN][1000 genomes]
rs61146845	0.85[ASN][1000 genomes]
rs61312980	0.86[ASN][1000 genomes]
rs62479751	0.84[ASN][1000 genomes]
rs62479756	0.84[ASN][1000 genomes]
rs62479757	0.84[ASN][1000 genomes]
rs62483286	0.82[ASN][1000 genomes]
rs62483297	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483298	0.88[ASN][1000 genomes]
rs62483302	0.87[ASN][1000 genomes]
rs62483305	0.85[ASN][1000 genomes]
rs62483342	0.83[ASN][1000 genomes]
rs62483348	0.85[ASN][1000 genomes]
rs6467185	0.84[ASN][1000 genomes]
rs6467186	0.84[ASN][1000 genomes]
rs6467188	0.83[ASN][1000 genomes]
rs6467189	0.83[ASN][1000 genomes]
rs6467194	0.82[ASN][1000 genomes]
rs6467195	0.82[ASN][1000 genomes]
rs6467196	0.80[ASN][1000 genomes]
rs6467197	0.80[ASN][1000 genomes]
rs6467202	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6467203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6467210	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs6955960	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6958788	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs6969528	0.81[ASN][1000 genomes]
rs6969554	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6975194	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6978360	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6979304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6979575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73233862	0.84[ASN][1000 genomes]
rs7385007	0.84[ASN][1000 genomes]
rs7385676	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7786336	0.87[ASN][1000 genomes]
rs7792915	0.83[ASN][1000 genomes]
rs7793136	0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7793351	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7795558	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7797359	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7797745	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7802233	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7804825	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7807293	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9641824	0.82[ASN][1000 genomes]
rs9641826	0.84[ASN][1000 genomes]
rs9641827	0.80[ASN][1000 genomes]
rs9690564	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9770238	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1848097	chr7:128179503-128248497	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:35)

SNP	Gene	Cis/trans	Tissue	Source
rs4731480	RP11-274B21.3	cis	Adipose Subcutaneous	GTEx
rs4731480	RP11-274B21.1	cis	Muscle Skeletal	GTEx
rs4731480	RP11-274B21.2	cis	Thyroid	GTEx
rs4731480	RP11-274B21.3	cis	Thyroid	GTEx
rs4731480	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs4731480	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs4731480	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs4731480	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs4731480	CICP14	cis	Adipose Subcutaneous	GTEx
rs4731480	RP11-274B21.4	cis	Whole Blood	GTEx
rs4731480	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs4731480	RP11-274B21.2	cis	Nerve Tibial	GTEx
rs4731480	CICP14	cis	lung	GTEx
rs4731480	RP11-274B21.2	cis	Artery Tibial	GTEx
rs4731480	RP11-274B21.1	cis	Whole Blood	GTEx
rs4731480	RP11-274B21.4	cis	Stomach	GTEx
rs4731480	RP11-274B21.3	cis	Muscle Skeletal	GTEx
rs4731480	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs4731480	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4731480	RP11-274B21.4	cis	Esophagus Muscularis	GTEx
rs4731480	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4731480	CICP14	cis	Muscle Skeletal	GTEx
rs4731480	RP11-274B21.4	cis	Artery Tibial	GTEx
rs4731480	RP11-274B21.2	cis	lung	GTEx
rs4731480	RP11-274B21.1	cis	lung	GTEx
rs4731480	CICP14	cis	Thyroid	GTEx
rs4731480	CICP14	cis	Artery Tibial	GTEx
rs4731480	RP11-274B21.2	cis	Stomach	GTEx
rs4731480	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs4731480	RP11-274B21.4	cis	Thyroid	GTEx
rs4731480	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs4731480	RP11-274B21.3	cis	Stomach	GTEx
rs4731480	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs4731480	RP11-274B21.4	cis	lung	GTEx
rs4731480	RP11-274B21.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172600-128191000	Weak transcription	Ovary	ovary
2	chr7:128172600-128191200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:128172600-128193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:128172600-128210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:128172600-128214800	Weak transcription	Gastric	stomach
6	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
7	chr7:128173000-128190400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:128173000-128190800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:128173000-128231800	Weak transcription	Colonic Mucosa	Colon
10	chr7:128173000-128231800	Weak transcription	Fetal Kidney	kidney
11	chr7:128173600-128201000	Weak transcription	Psoas Muscle	Psoas
12	chr7:128173600-128214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:128173800-128190800	Weak transcription	Brain Substantia Nigra	brain
14	chr7:128173800-128191000	Weak transcription	Brain Angular Gyrus	brain
15	chr7:128173800-128197800	Weak transcription	Right Atrium	heart
16	chr7:128173800-128199800	Weak transcription	Right Ventricle	heart
17	chr7:128173800-128201000	Weak transcription	Brain Germinal Matrix	brain
18	chr7:128173800-128214800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:128174000-128210600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:128174000-128220600	Weak transcription	NHLF	lung
22	chr7:128174000-128231800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:128174000-128232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:128174200-128191600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:128174600-128193600	Strong transcription	Fetal Stomach	stomach
26	chr7:128175400-128231800	Weak transcription	Left Ventricle	heart
27	chr7:128175800-128193600	Strong transcription	Fetal Intestine Small	intestine
28	chr7:128176000-128214800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:128177600-128231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:128177800-128191400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:128179200-128231800	Weak transcription	Esophagus	oesophagus
32	chr7:128181800-128231800	Weak transcription	Aorta	Aorta
33	chr7:128183000-128201000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:128183000-128214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:128183200-128191800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:128183400-128214800	Weak transcription	HUVEC	blood vessel
37	chr7:128183600-128190600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:128183600-128196200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:128183600-128214800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:128184800-128192000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:128185000-128210600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:128185200-128210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:128185600-128194800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:128186800-128190600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:128186800-128190600	Strong transcription	Adipose Nuclei	Adipose
46	chr7:128186800-128192200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr7:128187400-128212400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:128187400-128214800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:128187400-128214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:128187600-128196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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