Variant report

Variant	rs12660919
Chromosome Location	chr6:37886606-37886607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10428769	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10485030	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10498739	0.82[ASN][1000 genomes]
rs10498740	0.82[ASN][1000 genomes]
rs10947702	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10947704	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11751781	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11751927	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11751962	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11752521	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752809	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11752814	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11752863	0.82[ASN][1000 genomes]
rs11753300	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11755095	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11755629	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11756713	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11757161	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11759458	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11759496	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11759826	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11967129	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11969988	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12660922	0.82[ASN][1000 genomes]
rs12661378	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12661702	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12662305	0.81[ASN][1000 genomes]
rs12662426	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12664091	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12664768	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13190751	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13195545	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13205214	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13205311	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13206035	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890185	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16890247	0.83[ASN][1000 genomes]
rs16890267	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16890301	0.89[ASN][1000 genomes]
rs2025431	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2103950	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2273441	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2274091	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2395689	0.97[ASN][1000 genomes]
rs2645111	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645125	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645130	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842510	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842511	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2842512	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2842513	0.87[AFR][1000 genomes]
rs2842521	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34254045	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34450348	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35051126	0.96[ASN][1000 genomes]
rs35122358	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35216205	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35772972	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35849984	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3844314	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3852216	0.83[ASN][1000 genomes]
rs55679841	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56023538	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56129320	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57276677	0.82[ASN][1000 genomes]
rs57402213	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57911756	0.82[ASN][1000 genomes]
rs58333612	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58611435	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59036086	0.83[ASN][1000 genomes]
rs59103990	0.82[ASN][1000 genomes]
rs61411293	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6458032	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6903743	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6906289	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6908106	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6910715	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6911716	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6936260	0.80[AMR][1000 genomes]
rs71569402	0.86[ASN][1000 genomes]
rs73419440	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73421436	0.82[ASN][1000 genomes]
rs73421439	0.82[ASN][1000 genomes]
rs7742226	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7745796	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7746266	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7747996	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7748312	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7759145	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7759792	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7761561	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7764130	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7773419	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7775794	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv970036	chr6:37876765-37894762	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
3	chr6:37872000-37887600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:37872000-37888200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:37872000-37890400	Weak transcription	Small Intestine	intestine
6	chr6:37872600-37896400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:37873200-37887400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:37874000-37888400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:37874400-37887600	Weak transcription	Spleen	Spleen
11	chr6:37874400-37888200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:37874600-37903800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:37876600-37903200	Weak transcription	Dnd41	blood
14	chr6:37878800-37900400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:37879600-37889600	Weak transcription	K562	blood
16	chr6:37879800-37887400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:37879800-37887600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:37879800-37890400	Weak transcription	GM12878-XiMat	blood
19	chr6:37880000-37887600	Weak transcription	Right Atrium	heart
20	chr6:37880000-37888400	Weak transcription	Gastric	stomach
21	chr6:37880000-37888600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:37880000-37889600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:37880000-37890800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:37880000-37892200	Weak transcription	Ovary	ovary
25	chr6:37880000-37896600	Weak transcription	Right Ventricle	heart
26	chr6:37880000-37898000	Weak transcription	Fetal Thymus	thymus
27	chr6:37880200-37887400	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:37880200-37888200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
30	chr6:37880400-37889200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:37881200-37887600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:37881200-37890200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:37881400-37887400	Weak transcription	NH-A	brain
34	chr6:37881400-37887800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:37881400-37888200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:37881400-37895000	Weak transcription	Left Ventricle	heart
37	chr6:37881400-37896000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:37882000-37888200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:37882200-37888600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:37882200-37888600	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:37882400-37888200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:37882400-37891800	Weak transcription	Lung	lung
43	chr6:37883000-37888400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:37883400-37887400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:37883400-37887600	Weak transcription	Brain Substantia Nigra	brain
46	chr6:37883400-37888200	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:37883400-37888600	Weak transcription	Fetal Lung	lung
48	chr6:37883600-37887000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:37883600-37887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:37883600-37887600	Weak transcription	Brain Anterior Caudate	brain

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