Variant report

Variant	rs6431691
Chromosome Location	chr2:15466301-15466302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:15464816..15466527-chr2:15471829..15474084,2	K562	blood:
2	chr2:15465971..15468017-chr2:15468556..15470457,2	K562	blood:
3	chr2:15463950..15466676-chr2:15477015..15479749,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10167186	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10181295	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10193783	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193872	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10199552	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10199885	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10206116	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1076509	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10803672	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929355	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10929356	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10929357	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11686627	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11892206	0.94[ASN][1000 genomes]
rs11904635	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12613488	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12692259	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12993581	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12993786	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1318102	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1808361	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1974772	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1989380	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2020147	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042144	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755127	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805093	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805095	0.95[ASN][1000 genomes]
rs3828463	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4465744	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4668889	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668890	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668891	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668892	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668893	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6431688	0.90[EUR][1000 genomes]
rs6431689	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6431690	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6708720	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6711181	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6731789	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6732362	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6738994	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6746672	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6756029	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs721858	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7340328	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs741570	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7575687	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7584861	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7598652	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7599455	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605754	0.94[ASN][1000 genomes]
rs888636	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs929735	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs962616	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9711182	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9917271	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515567	chr2:15004748-15906778	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv529077	chr2:15143950-15722947	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv948649	chr2:15273933-15572834	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2762245	chr2:15418054-15480441	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:15371400-15468400	Weak transcription	Esophagus	oesophagus
2	chr2:15375000-15469000	Weak transcription	Psoas Muscle	Psoas
3	chr2:15399800-15470600	Weak transcription	HUVEC	blood vessel
4	chr2:15400600-15468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:15401200-15469600	Weak transcription	Small Intestine	intestine
6	chr2:15416200-15478200	Weak transcription	NH-A	brain
7	chr2:15421000-15494800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:15426800-15473200	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:15426800-15520000	Weak transcription	Colonic Mucosa	Colon
10	chr2:15427400-15467800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:15427400-15470200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:15427600-15467800	Weak transcription	Brain Substantia Nigra	brain
13	chr2:15433000-15469000	Weak transcription	Fetal Brain Male	brain
14	chr2:15437400-15468200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:15437800-15467600	Weak transcription	A549	lung
16	chr2:15437800-15475800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:15439400-15467800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:15441000-15499800	Weak transcription	NHLF	lung
19	chr2:15442600-15468400	Weak transcription	Fetal Heart	heart
20	chr2:15442800-15467200	Weak transcription	NHDF-Ad	bronchial
21	chr2:15442800-15513600	Weak transcription	HSMMtube	muscle
22	chr2:15443600-15469000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:15443800-15480600	Weak transcription	Fetal Kidney	kidney
24	chr2:15444400-15468800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:15445400-15467600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:15445600-15469200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:15447400-15466800	Weak transcription	HSMM	muscle
28	chr2:15447400-15467800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:15447400-15474800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:15447600-15467000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:15447600-15468400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:15447600-15472000	Weak transcription	Brain Germinal Matrix	brain
33	chr2:15448000-15468400	Weak transcription	HepG2	liver
34	chr2:15448200-15469800	Weak transcription	Placenta	Placenta
35	chr2:15448400-15468800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:15448800-15467200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:15448800-15474600	Weak transcription	NHEK	skin
38	chr2:15452000-15472400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:15452400-15467200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:15454600-15470400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:15456800-15472200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:15457000-15468400	Weak transcription	GM12878-XiMat	blood
43	chr2:15457200-15467600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:15457200-15468400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:15457200-15468400	Weak transcription	Fetal Thymus	thymus
46	chr2:15457200-15468800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:15457200-15468800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:15457200-15468800	Weak transcription	Pancreas	Pancrea
49	chr2:15457200-15469600	Weak transcription	Fetal Stomach	stomach
50	chr2:15457200-15474200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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