Variant report

Variant	rs4714173
Chromosome Location	chr6:38602272-38602273
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	chr6:38593677..38595710-chr6:38600542..38603385,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10947753	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1579028	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs3799703	1.00[JPT][hapmap]
rs4141854	0.90[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4631264	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4711552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4711553	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711554	0.81[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711555	0.83[EUR][1000 genomes]
rs4714171	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714174	0.93[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58362455	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58648636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6458065	0.81[JPT][hapmap]
rs6905545	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6925790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932648	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs7750482	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7750997	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7752972	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7753374	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7767791	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7775968	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9296254	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9296255	1.00[ASW][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9349092	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9349093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9349094	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9366965	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9366969	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9369065	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9369069	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369073	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs937662	1.00[JPT][hapmap]
rs9380757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394513	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9394514	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9394515	0.90[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9394516	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9394519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394523	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs9394524	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs9462439	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9462441	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9462442	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9462446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9462448	1.00[JPT][hapmap]
rs9462451	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs9470901	0.89[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9470902	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9470906	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9470907	0.89[ASW][hapmap]
rs9470908	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9470916	1.00[ASW][hapmap];0.93[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs9470917	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs9470918	0.86[CHB][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr6:38580800-38604400	Weak transcription	Ovary	ovary
2	chr6:38599600-38606200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:38599600-38606600	Weak transcription	Lung	lung
4	chr6:38599800-38604400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:38600400-38603000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:38600600-38605600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:38600600-38606600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:38600800-38606600	Weak transcription	Right Ventricle	heart
9	chr6:38601000-38602800	Enhancers	Brain Substantia Nigra	brain
10	chr6:38601000-38604600	Enhancers	Stomach Mucosa	stomach
11	chr6:38601000-38606400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:38601200-38602800	Weak transcription	Left Ventricle	heart
13	chr6:38601200-38607000	Weak transcription	Gastric	stomach
14	chr6:38601400-38602400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:38601600-38602600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:38601600-38602800	Enhancers	Fetal Heart	heart
17	chr6:38601600-38602800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:38601600-38603800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:38601600-38604600	Weak transcription	Fetal Brain Female	brain
20	chr6:38601600-38606600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:38601800-38602400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:38601800-38602400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:38601800-38602400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:38601800-38602400	Enhancers	Brain Hippocampus Middle	brain
25	chr6:38601800-38602800	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:38601800-38603000	Enhancers	HUVEC	blood vessel
27	chr6:38601800-38603600	Enhancers	Small Intestine	intestine
28	chr6:38601800-38604600	Enhancers	Duodenum Mucosa	Duodenum
29	chr6:38601800-38605000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:38602000-38602400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr6:38602000-38602600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:38602000-38602600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:38602000-38602600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:38602000-38602800	Enhancers	Primary T cells from cord blood	blood
35	chr6:38602000-38602800	Enhancers	HSMM	muscle
36	chr6:38602000-38603000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:38602000-38606600	Weak transcription	Psoas Muscle	Psoas
38	chr6:38602200-38602600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:38602200-38602600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:38602200-38602800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:38602200-38602800	Enhancers	NH-A	brain
42	chr6:38602200-38603000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:38602200-38603200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:38602200-38603400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr6:38602200-38605400	Weak transcription	Brain Anterior Caudate	brain
46	chr6:38602200-38606000	Weak transcription	Brain Germinal Matrix	brain
47	chr6:38602200-38606200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:38602200-38606400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:38602200-38606600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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