Variant report

Variant	rs10950026
Chromosome Location	chr7:65624083-65624084
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10950024	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10950025	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10950027	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10950029	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11760805	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11767833	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11769702	0.95[CEU][hapmap]
rs12666485	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12671834	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12673308	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1547529	1.00[CEU][hapmap]
rs160641	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs160645	0.81[AMR][1000 genomes]
rs160647	0.81[AMR][1000 genomes]
rs17138149	1.00[CEU][hapmap]
rs1909508	1.00[CEU][hapmap]
rs2420456	1.00[CEU][hapmap]
rs2451953	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2460427	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2465121	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28815324	0.82[AMR][1000 genomes]
rs2946580	0.82[AMR][1000 genomes]
rs313817	0.81[ASN][1000 genomes]
rs313818	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs313823	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs313828	0.81[AMR][1000 genomes]
rs313829	0.87[CEU][hapmap]
rs313830	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs316305	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs316306	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs316316	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs316320	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs316323	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs316324	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs316328	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4441996	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6460276	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6460281	1.00[CEU][hapmap]
rs67302640	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67397473	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs67688847	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67775320	0.84[AMR][1000 genomes]
rs6960870	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6979636	1.00[CEU][hapmap]
rs73136346	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73376394	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73376401	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7782212	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7783889	1.00[CEU][hapmap]
rs7786728	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7787063	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10950026	GTF2IRD1P1	cis	Thyroid	GTEx
rs10950026	GS1-124K5.11	cis	Thyroid	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65609600-65624600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:65612000-65635400	Weak transcription	Fetal Kidney	kidney
3	chr7:65616200-65624400	Weak transcription	Psoas Muscle	Psoas
4	chr7:65617600-65628800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:65617600-65632400	Weak transcription	Hela-S3	cervix
6	chr7:65618000-65624600	Strong transcription	Fetal Muscle Leg	muscle
7	chr7:65618200-65624200	Strong transcription	Fetal Lung	lung
8	chr7:65618200-65625200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:65618200-65632400	Weak transcription	HUVEC	blood vessel
10	chr7:65618200-65635400	Weak transcription	Esophagus	oesophagus
11	chr7:65618200-65635600	Weak transcription	Right Ventricle	heart
12	chr7:65618400-65624400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:65618800-65624800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:65618800-65625400	Weak transcription	Fetal Heart	heart
15	chr7:65618800-65627600	Weak transcription	NHEK	skin
16	chr7:65619000-65625000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:65619000-65625200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:65619000-65625400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:65619000-65627800	Weak transcription	HepG2	liver
20	chr7:65619000-65631200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:65619000-65632400	Weak transcription	NHLF	lung
22	chr7:65619000-65632800	Weak transcription	Gastric	stomach
23	chr7:65619000-65635200	Weak transcription	Spleen	Spleen
24	chr7:65619000-65635400	Weak transcription	Pancreas	Pancrea
25	chr7:65619000-65635600	Weak transcription	HMEC	breast
26	chr7:65619000-65635800	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:65619400-65624200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:65619400-65625400	Weak transcription	Small Intestine	intestine
29	chr7:65619400-65632400	Weak transcription	NHDF-Ad	bronchial
30	chr7:65620000-65625000	Weak transcription	Brain Angular Gyrus	brain
31	chr7:65620800-65635400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:65621000-65624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:65621000-65625200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:65621000-65627800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:65621200-65625800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:65622000-65624600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr7:65622400-65632800	Weak transcription	Brain Substantia Nigra	brain
38	chr7:65622600-65625000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:65622600-65625200	ZNF genes & repeats	Fetal Stomach	stomach
40	chr7:65622600-65625400	ZNF genes & repeats	Fetal Brain Female	brain
41	chr7:65622600-65635600	Weak transcription	Stomach Mucosa	stomach
42	chr7:65622800-65624400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:65622800-65632600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:65623000-65624400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:65623000-65625600	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr7:65623000-65625800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:65623200-65624200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr7:65623200-65624600	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr7:65623400-65624400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:65623600-65624200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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