Variant report

Variant	rs6674353
Chromosome Location	chr1:175916267-175916268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10429846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798430	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798435	1.00[CHB][hapmap]
rs10913125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376706	1.00[ASN][1000 genomes]
rs1357338	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481626	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481632	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481636	0.85[AMR][1000 genomes]
rs2481637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481640	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481648	1.00[CHB][hapmap]
rs2481649	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481652	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502820	0.80[AFR][1000 genomes]
rs2502821	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502827	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502828	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502833	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2502837	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233165	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344283	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4347169	1.00[CHB][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379645	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460596	1.00[CHB][hapmap]
rs4534339	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652146	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425369	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6425372	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425374	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657278	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687849	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704250	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711160	1.00[ASN][1000 genomes]
rs7523048	1.00[CHB][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525112	1.00[CHB][hapmap]
rs7532122	1.00[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541563	1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554913	1.00[CHB][hapmap]
rs791748	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425444	1.00[EUR][1000 genomes]
rs964931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998631	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175874400-175945600	Weak transcription	A549	lung
2	chr1:175880000-175937800	Weak transcription	HSMMtube	muscle
3	chr1:175881000-175924200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175886400-175929400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:175887800-175929800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:175889200-175937800	Weak transcription	Osteobl	bone
7	chr1:175892400-175940600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
13	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
14	chr1:175901600-175940600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:175901800-175925800	Weak transcription	HUVEC	blood vessel
16	chr1:175902400-175917800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:175902800-175931800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:175903200-175924200	Weak transcription	Gastric	stomach
19	chr1:175903400-175951400	Weak transcription	K562	blood
20	chr1:175903600-175940800	Weak transcription	HMEC	breast
21	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
22	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
23	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:175905400-175918800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:175905600-175918800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:175906000-175918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:175906000-175930000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:175906200-175917000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:175906200-175917600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:175906200-175919000	Weak transcription	Fetal Brain Male	brain
31	chr1:175906400-175920800	Weak transcription	HepG2	liver
32	chr1:175906400-175940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:175906400-175944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:175906400-175952400	Weak transcription	Spleen	Spleen
35	chr1:175906400-175962600	Weak transcription	NH-A	brain
36	chr1:175906600-175921200	Weak transcription	Fetal Stomach	stomach
37	chr1:175906800-175921000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:175906800-175952000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:175907400-175916600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:175907400-175921200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:175907400-175950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:175907800-175916400	Strong transcription	Adipose Nuclei	Adipose
43	chr1:175907800-175937400	Weak transcription	NHLF	lung
44	chr1:175907800-175940600	Weak transcription	Colonic Mucosa	Colon
45	chr1:175907800-175945400	Weak transcription	Small Intestine	intestine
46	chr1:175907800-175945600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:175908000-175920000	Weak transcription	Fetal Intestine Small	intestine
48	chr1:175908000-175959400	Weak transcription	NHEK	skin
49	chr1:175908200-175939400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:175908400-175919000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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