Variant report

Variant	rs6958343
Chromosome Location	chr7:128190363-128190364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10085435	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10223975	0.83[EUR][1000 genomes]
rs10227608	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231136	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10233059	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241185	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10250369	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253131	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10259359	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261037	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270431	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10270985	0.83[AMR][1000 genomes]
rs10272840	0.88[AFR][1000 genomes]
rs10954205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11760285	1.00[ASN][1000 genomes]
rs11761662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11766319	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11769546	1.00[ASN][1000 genomes]
rs11770604	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11771884	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333625	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12530672	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12537208	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224613	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13226592	0.83[EUR][1000 genomes]
rs13235219	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246302	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247746	0.83[EUR][1000 genomes]
rs28496126	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521260	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521711	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs339070	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs339079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs339093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34120723	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34125589	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34490491	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34751214	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34757247	0.83[AFR][1000 genomes]
rs34887739	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34942906	0.82[AFR][1000 genomes]
rs34960471	0.84[AFR][1000 genomes]
rs35247963	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35603038	0.87[AFR][1000 genomes]
rs35871589	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3816421	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4289745	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs55953818	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60029447	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654313	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6467181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467184	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467201	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6960296	0.82[EUR][1000 genomes]
rs6961754	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6963982	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967393	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6969343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971819	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6976879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6977126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs71546785	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546786	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546790	0.86[AFR][1000 genomes]
rs71578280	1.00[ASN][1000 genomes]
rs7776915	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777625	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778169	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7786772	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787764	0.81[EUR][1000 genomes]
rs7790478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs7790839	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7794447	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7798172	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7810047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7811083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9690225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690934	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9692416	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9768808	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9769753	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6958343	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs6958343	RP11-274B21.10	cis	Thyroid	GTEx
rs6958343	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs6958343	METTL2B	cis	Artery Tibial	GTEx
rs6958343	CICP14	cis	lung	GTEx
rs6958343	CICP14	cis	Muscle Skeletal	GTEx
rs6958343	CICP14	cis	Thyroid	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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