Variant report

Variant	rs6425367
Chromosome Location	chr1:175919254-175919255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:175919238-175919578	K562	blood:	n/a	n/a

Variant related genes	Relation type
RFWD2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10436864	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10737315	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753111	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10798427	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10798428	0.89[ASN][1000 genomes]
rs10798432	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1155229	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11576471	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12038027	0.95[ASN][1000 genomes]
rs1357337	0.95[ASN][1000 genomes]
rs1522637	0.81[ASN][1000 genomes]
rs2481641	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2481647	0.82[ASN][1000 genomes]
rs2481651	0.85[ASN][1000 genomes]
rs2481657	0.85[ASN][1000 genomes]
rs2502822	0.85[ASN][1000 genomes]
rs2502826	0.85[ASN][1000 genomes]
rs2502834	0.82[AMR][1000 genomes]
rs2861629	0.81[ASN][1000 genomes]
rs4129061	0.85[ASN][1000 genomes]
rs4307526	0.90[ASN][1000 genomes]
rs4314844	0.85[ASN][1000 genomes]
rs4652143	0.87[ASN][1000 genomes]
rs6425368	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6661828	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687043	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6688211	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6704509	0.90[ASN][1000 genomes]
rs7517351	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7522442	0.81[ASN][1000 genomes]
rs7524972	0.95[ASN][1000 genomes]
rs7537435	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7537480	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7539247	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7545043	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7545639	0.83[ASN][1000 genomes]
rs7546538	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7552181	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7553184	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9783047	0.95[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:112 , 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	chr1:175902800-175931800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:175903200-175924200	Weak transcription	Gastric	stomach
18	chr1:175903400-175951400	Weak transcription	K562	blood
19	chr1:175903600-175940800	Weak transcription	HMEC	breast
20	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
21	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
22	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:175906000-175930000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:175906400-175920800	Weak transcription	HepG2	liver
25	chr1:175906400-175940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:175906400-175944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:175906400-175952400	Weak transcription	Spleen	Spleen
28	chr1:175906400-175962600	Weak transcription	NH-A	brain
29	chr1:175906600-175921200	Weak transcription	Fetal Stomach	stomach
30	chr1:175906800-175921000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:175906800-175952000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:175907400-175921200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:175907400-175950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:175907800-175937400	Weak transcription	NHLF	lung
35	chr1:175907800-175940600	Weak transcription	Colonic Mucosa	Colon
36	chr1:175907800-175945400	Weak transcription	Small Intestine	intestine
37	chr1:175907800-175945600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:175908000-175920000	Weak transcription	Fetal Intestine Small	intestine
39	chr1:175908000-175959400	Weak transcription	NHEK	skin
40	chr1:175908200-175939400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:175909400-175948000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:175909600-175920600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:175909600-175921000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:175909600-175924200	Weak transcription	Brain Anterior Caudate	brain
45	chr1:175909600-175924200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:175909600-175932200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:175909600-175942800	Weak transcription	Fetal Brain Female	brain
48	chr1:175910000-175920800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:175911200-175947600	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:175911200-175950400	Weak transcription	Fetal Heart	heart

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