Variant report

Variant	rs6151581
Chromosome Location	chr15:59956730-59956731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59953943..59956937-chr15:59959254..59962353,4	K562	blood:
2	chr15:59955004..59957068-chr15:59966520..59968086,2	K562	blood:
3	chr15:59956676..59958590-chr15:59980762..59982433,2	K562	blood:

Variant related genes	Relation type
ENSG00000140299	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1002181	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10152209	0.93[EUR][1000 genomes]
rs10152414	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10152415	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10152509	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10162629	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1046053	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1057059	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11071465	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11071468	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11071469	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1135148	0.90[EUR][1000 genomes]
rs11634067	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11637071	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11637359	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11853610	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11854063	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12441240	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593480	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12708458	0.92[EUR][1000 genomes]
rs12708459	0.92[EUR][1000 genomes]
rs12902582	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12903647	0.91[EUR][1000 genomes]
rs12906392	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12907554	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12907641	0.84[EUR][1000 genomes]
rs12909005	0.83[EUR][1000 genomes]
rs12910751	0.80[EUR][1000 genomes]
rs12912652	0.85[EUR][1000 genomes]
rs1479885	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1531638	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1531639	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1552031	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1871499	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1871500	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1871503	0.84[EUR][1000 genomes]
rs1979422	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2101019	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2306355	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2307272	0.93[EUR][1000 genomes]
rs2307273	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2307275	0.92[EUR][1000 genomes]
rs28671744	0.91[EUR][1000 genomes]
rs2899649	0.85[EUR][1000 genomes]
rs34797071	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34894301	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784389	0.84[EUR][1000 genomes]
rs3825870	0.80[EUR][1000 genomes]
rs4232	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4270113	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4533213	0.92[EUR][1000 genomes]
rs4774340	0.93[EUR][1000 genomes]
rs4774341	0.93[EUR][1000 genomes]
rs4775191	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4775195	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4775197	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151458	0.92[EUR][1000 genomes]
rs6151459	0.86[EUR][1000 genomes]
rs6151460	0.92[EUR][1000 genomes]
rs6151461	0.92[EUR][1000 genomes]
rs6151462	0.92[EUR][1000 genomes]
rs6151467	0.92[EUR][1000 genomes]
rs6151470	0.92[EUR][1000 genomes]
rs6151472	0.90[EUR][1000 genomes]
rs6151474	0.92[EUR][1000 genomes]
rs6151477	0.92[EUR][1000 genomes]
rs6151483	0.82[EUR][1000 genomes]
rs6151486	0.92[EUR][1000 genomes]
rs6151487	0.82[EUR][1000 genomes]
rs6151501	0.92[EUR][1000 genomes]
rs6151503	0.93[EUR][1000 genomes]
rs6151504	0.93[EUR][1000 genomes]
rs6151506	0.93[EUR][1000 genomes]
rs6151514	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151525	0.84[EUR][1000 genomes]
rs6151528	0.92[EUR][1000 genomes]
rs6151529	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151532	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151533	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151535	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151536	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151542	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151545	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151551	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6151553	0.85[EUR][1000 genomes]
rs6151557	0.82[EUR][1000 genomes]
rs6151561	0.84[EUR][1000 genomes]
rs6151565	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6151568	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6151570	0.84[EUR][1000 genomes]
rs6151571	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151574	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151576	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6151580	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151586	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151588	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151589	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151590	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151592	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62012358	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62015260	0.81[EUR][1000 genomes]
rs62015289	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6494128	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6494130	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6494131	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6494133	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67697180	0.82[EUR][1000 genomes]
rs67820349	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7162964	0.87[EUR][1000 genomes]
rs7164756	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7178050	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7180408	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7182962	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs722163	0.92[EUR][1000 genomes]
rs722164	0.92[EUR][1000 genomes]
rs7497974	0.85[EUR][1000 genomes]
rs7882	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8027679	0.86[ASN][1000 genomes]
rs8033161	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8040114	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8041394	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1824522	chr15:59919844-59987181	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1043693	chr15:59944471-59971500	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6151581	GTF2A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59949400-59960200	Weak transcription	Fetal Heart	heart
2	chr15:59949800-59957200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:59949800-59957200	Weak transcription	Spleen	Spleen
4	chr15:59949800-59963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:59949800-59964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:59949800-59968000	Weak transcription	Stomach Mucosa	stomach
7	chr15:59949800-59968400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:59949800-59980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:59950000-59963200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:59950200-59956800	Weak transcription	Fetal Intestine Small	intestine
11	chr15:59950200-59956800	Weak transcription	Fetal Stomach	stomach
12	chr15:59950200-59956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:59950200-59957000	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:59950200-59958400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:59950200-59959200	Weak transcription	Fetal Brain Male	brain
16	chr15:59950200-59960200	Weak transcription	Colonic Mucosa	Colon
17	chr15:59950200-59961200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:59950200-59963400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr15:59950200-59963400	Weak transcription	Brain Angular Gyrus	brain
20	chr15:59950200-59963400	Weak transcription	Ovary	ovary
21	chr15:59950200-59964000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:59950200-59964000	Weak transcription	Gastric	stomach
23	chr15:59950200-59964000	Weak transcription	Lung	lung
24	chr15:59950200-59964000	Weak transcription	Small Intestine	intestine
25	chr15:59950200-59967800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:59950200-59968400	Weak transcription	Right Ventricle	heart
27	chr15:59950200-59968800	Weak transcription	Aorta	Aorta
28	chr15:59950400-59956800	Weak transcription	Thymus	Thymus
29	chr15:59950400-59958400	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:59950400-59960200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr15:59950400-59964000	Weak transcription	Pancreas	Pancrea
32	chr15:59950400-59964000	Weak transcription	Psoas Muscle	Psoas
33	chr15:59950400-59965600	Weak transcription	Brain Substantia Nigra	brain
34	chr15:59950400-59968800	Weak transcription	Esophagus	oesophagus
35	chr15:59950400-59979600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:59950600-59957600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:59950800-59961600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr15:59951000-59978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:59951200-59958600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:59951400-59960600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:59951400-59964600	Strong transcription	HUVEC	blood vessel
42	chr15:59951400-59965400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr15:59951400-59972600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:59951400-59973600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr15:59951400-59973600	Strong transcription	HSMM	muscle
46	chr15:59951400-59975000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:59951400-59975200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:59951400-59975400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr15:59951400-59976000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr15:59951400-59978800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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