Variant report

Variant	rs34450348
Chromosome Location	chr6:37927625-37927626
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10428769	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10485030	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10498739	0.84[ASN][1000 genomes]
rs10498740	0.84[ASN][1000 genomes]
rs10947702	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10947704	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11751781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751927	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11751962	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11752521	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11752814	0.81[EUR][1000 genomes]
rs11752863	0.85[ASN][1000 genomes]
rs11753300	0.81[EUR][1000 genomes]
rs11755095	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11755629	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11756713	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11757161	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11759458	0.80[EUR][1000 genomes]
rs11759496	0.81[ASN][1000 genomes]
rs11759826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11967129	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11969988	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12660919	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12660922	0.84[ASN][1000 genomes]
rs12661378	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12661480	0.81[ASN][1000 genomes]
rs12661702	0.82[ASN][1000 genomes]
rs12662305	0.84[ASN][1000 genomes]
rs12662426	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12664091	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12664768	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13190751	0.81[EUR][1000 genomes]
rs13195545	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13205214	0.82[EUR][1000 genomes]
rs13205311	0.82[ASN][1000 genomes]
rs13206035	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16890185	0.83[EUR][1000 genomes]
rs16890247	0.83[ASN][1000 genomes]
rs16890267	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890301	0.92[ASN][1000 genomes]
rs2025431	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2103950	0.83[EUR][1000 genomes]
rs2273441	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2274091	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2395689	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2645111	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2645125	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2645130	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842510	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842511	0.98[ASN][1000 genomes]
rs2842512	0.98[ASN][1000 genomes]
rs2842521	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34254045	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35051126	0.99[ASN][1000 genomes]
rs35122358	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35216205	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35772972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35849984	0.87[EUR][1000 genomes]
rs3844314	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3852216	0.83[ASN][1000 genomes]
rs55679841	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56023538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56129320	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57276677	0.82[ASN][1000 genomes]
rs57402213	0.81[ASN][1000 genomes]
rs57591988	0.81[ASN][1000 genomes]
rs57911756	0.82[ASN][1000 genomes]
rs58333612	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58611435	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59036086	0.83[ASN][1000 genomes]
rs59103990	0.84[ASN][1000 genomes]
rs59996041	0.81[ASN][1000 genomes]
rs61411293	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6458032	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6903743	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6906289	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6910715	0.81[EUR][1000 genomes]
rs6911716	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71569402	0.89[ASN][1000 genomes]
rs73419440	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73421436	0.85[ASN][1000 genomes]
rs73421439	0.85[ASN][1000 genomes]
rs752110	0.81[ASN][1000 genomes]
rs7742226	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7745796	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7746266	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7747996	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7748312	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7759145	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7759792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761561	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7764130	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7773419	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7775794	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
3	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
4	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:37896800-37929000	Weak transcription	Esophagus	oesophagus
6	chr6:37904800-37933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:37911000-37933200	Weak transcription	NHEK	skin
8	chr6:37911600-37928600	Weak transcription	Lung	lung
9	chr6:37911600-37935400	Weak transcription	Primary B cells from cord blood	blood
10	chr6:37911600-37936200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:37917000-37928800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:37917800-37928600	Weak transcription	Fetal Intestine Small	intestine
13	chr6:37920000-37933600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:37920600-37928000	Weak transcription	Primary T cells from cord blood	blood
15	chr6:37920600-37928000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:37920800-37930600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:37921000-37933000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:37922200-37933400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:37922600-37939000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:37922800-37928600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:37922800-37938600	Weak transcription	Fetal Lung	lung
22	chr6:37922800-37957600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:37922800-37958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:37923000-37928800	Weak transcription	Pancreas	Pancrea
25	chr6:37923000-37939000	Weak transcription	Ovary	ovary
26	chr6:37923200-37928400	Weak transcription	Brain Angular Gyrus	brain
27	chr6:37923400-37931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:37923600-37927800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr6:37923600-37938800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:37923600-37942200	Weak transcription	Aorta	Aorta
31	chr6:37923600-37947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:37923800-37934200	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:37924400-37932400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:37924600-37941600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:37924800-37928200	Weak transcription	Right Atrium	heart
36	chr6:37924800-37928800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:37924800-37928800	Weak transcription	Spleen	Spleen
38	chr6:37925000-37928800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:37925000-37928800	Weak transcription	Left Ventricle	heart
40	chr6:37925000-37934600	Weak transcription	A549	lung
41	chr6:37925200-37933200	Weak transcription	Osteobl	bone
42	chr6:37925200-37938800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:37925400-37933600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:37925400-37939400	Weak transcription	Adipose Nuclei	Adipose
45	chr6:37925600-37928000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:37925600-37928000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:37925600-37934200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:37925600-37936400	Weak transcription	Colon Smooth Muscle	Colon
49	chr6:37925800-37930800	Weak transcription	Liver	Liver
50	chr6:37926000-37936200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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