Variant report

Variant	rs13214465
Chromosome Location	chr6:37944492-37944493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37873063..37875947-chr6:37943285..37945175,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10456097	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1187422	0.84[ASN][1000 genomes]
rs1187423	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12192182	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12194823	0.82[EUR][1000 genomes]
rs12198907	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12200258	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12204352	0.81[EUR][1000 genomes]
rs12206818	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12211248	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12211981	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12213151	0.85[EUR][1000 genomes]
rs12213835	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13210701	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13220131	0.93[EUR][1000 genomes]
rs16890344	0.81[EUR][1000 genomes]
rs171831	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1812599	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2132597	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259673	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259684	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259686	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259689	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259690	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259691	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259695	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259713	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259715	0.84[ASN][1000 genomes]
rs259716	0.80[ASN][1000 genomes]
rs2645102	0.85[EUR][1000 genomes]
rs2645107	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2645113	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2645116	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645120	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645127	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2645128	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2645131	0.85[EUR][1000 genomes]
rs2645134	0.86[EUR][1000 genomes]
rs2645137	0.86[EUR][1000 genomes]
rs2842500	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2842517	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842527	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2842529	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34592529	0.84[AFR][1000 genomes]
rs34871463	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35823566	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56098839	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7747130	0.82[EUR][1000 genomes]
rs9647619	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs966705	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv2761037	chr6:37930659-37966762	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37922800-37957600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37922800-37958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:37923600-37947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:37926800-37955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:37929400-37947800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:37929400-37953200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37934400-37949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:37934800-37947400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:37935000-37947000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:37935200-37947000	Weak transcription	NHEK	skin
11	chr6:37936600-37947400	Weak transcription	Left Ventricle	heart
12	chr6:37939400-37947400	Weak transcription	Ovary	ovary
13	chr6:37940400-37948600	Weak transcription	HSMMtube	muscle
14	chr6:37941200-37945000	ZNF genes & repeats	GM12878-XiMat	blood
15	chr6:37941200-37947000	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:37942400-37945000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:37942400-37953200	Weak transcription	Esophagus	oesophagus
18	chr6:37942800-37946600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:37942800-37947200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:37942800-37947200	Weak transcription	A549	lung
21	chr6:37942800-37947800	Weak transcription	Fetal Intestine Small	intestine
22	chr6:37942800-37949600	Weak transcription	Spleen	Spleen
23	chr6:37942800-37953600	Weak transcription	HepG2	liver
24	chr6:37942800-37956800	Weak transcription	Aorta	Aorta
25	chr6:37943000-37944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:37943000-37946400	Weak transcription	Psoas Muscle	Psoas
27	chr6:37943000-37947000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:37943000-37947000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:37943000-37947200	Weak transcription	Fetal Lung	lung
30	chr6:37943000-37947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:37943000-37947800	Weak transcription	Adipose Nuclei	Adipose
32	chr6:37943000-37948800	Weak transcription	HSMM	muscle
33	chr6:37943000-37949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:37943000-37951600	Weak transcription	NHDF-Ad	bronchial
35	chr6:37943000-37953000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:37943000-37955800	Weak transcription	Fetal Heart	heart
37	chr6:37943200-37944800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:37943200-37947200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:37943200-37947200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:37943200-37947400	Weak transcription	Liver	Liver
41	chr6:37943200-37951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:37943600-37951800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:37943600-37952400	Weak transcription	Gastric	stomach
44	chr6:37943800-37944800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:37943800-37947000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:37944400-37944800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:37944400-37944800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
48	chr6:37944400-37945000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr6:37944400-37945000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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