Variant report

Variant	rs2749920
Chromosome Location	chr6:37898767-37898768
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11963886	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1496579	1.00[ASN][1000 genomes]
rs16890244	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16890367	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2495213	1.00[ASN][1000 genomes]
rs2645103	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645133	1.00[ASN][1000 genomes]
rs2645135	1.00[ASN][1000 genomes]
rs2645136	1.00[ASN][1000 genomes]
rs2645138	1.00[ASN][1000 genomes]
rs2842501	1.00[ASN][1000 genomes]
rs2842502	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2842504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842509	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2842518	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842519	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6458033	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6930917	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7765420	1.00[ASN][1000 genomes]
rs7775465	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9380711	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:87 , 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	chr6:37874600-37903800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:37876600-37903200	Weak transcription	Dnd41	blood
4	chr6:37878800-37900400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
6	chr6:37884600-37904800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:37885200-37906200	Weak transcription	HSMM	muscle
9	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
10	chr6:37887800-37906200	Weak transcription	HSMMtube	muscle
11	chr6:37887800-37906600	Weak transcription	NH-A	brain
12	chr6:37888600-37903600	Weak transcription	Osteobl	bone
13	chr6:37888800-37903800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:37889000-37906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:37889200-37903600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:37889800-37903800	Weak transcription	Aorta	Aorta
17	chr6:37890800-37910400	Weak transcription	NHEK	skin
18	chr6:37891000-37900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:37892400-37902800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:37892400-37903400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:37892400-37904000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:37892400-37904400	Weak transcription	GM12878-XiMat	blood
23	chr6:37892400-37907200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:37892600-37903800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:37892600-37905000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:37892600-37910800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:37892800-37903400	Weak transcription	Primary T cells from cord blood	blood
29	chr6:37892800-37904000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:37892800-37904000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:37892800-37904600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:37893200-37910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:37894200-37899000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:37894600-37903200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:37895200-37906600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:37895400-37898800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:37895400-37898800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:37895800-37903200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:37895800-37908400	Weak transcription	Adipose Nuclei	Adipose
40	chr6:37896200-37898800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:37896200-37898800	Weak transcription	Fetal Heart	heart
42	chr6:37896200-37900200	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:37896400-37899000	Enhancers	Liver	Liver
44	chr6:37896400-37900000	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:37896600-37898800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:37896600-37898800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:37896600-37900800	Enhancers	Fetal Intestine Small	intestine
48	chr6:37896600-37902200	Enhancers	HepG2	liver
49	chr6:37896800-37898800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:37896800-37899200	Enhancers	Fetal Intestine Large	intestine

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