Variant report

Variant	rs6708720
Chromosome Location	chr2:15447902-15447903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:15425489..15428245-chr2:15447107..15448698,2	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	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10193783	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10193872	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199552	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10199885	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10206116	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076509	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10803672	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929355	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10929356	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10929357	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686627	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11892206	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11904635	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12613488	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12692259	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12993581	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12993786	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1318102	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1808361	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974772	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1989380	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2020147	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2042144	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755127	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805093	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805095	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3828463	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4465744	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668889	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4668890	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4668891	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4668892	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4668893	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6431688	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6431689	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431690	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6431691	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6711181	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6731789	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6732362	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6738994	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6746672	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6756029	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs721858	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7340328	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs741570	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7575687	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7584861	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7598652	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7599455	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605754	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs888636	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs929735	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs962616	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9711182	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9917271	0.88[EUR][1000 genomes];0.97[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:117 , 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	chr2:15392400-15463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:15399600-15453600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:15399800-15470600	Weak transcription	HUVEC	blood vessel
6	chr2:15400600-15468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:15400800-15456400	Weak transcription	Pancreas	Pancrea
8	chr2:15401200-15469600	Weak transcription	Small Intestine	intestine
9	chr2:15402400-15457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:15407400-15450000	Weak transcription	HMEC	breast
11	chr2:15413800-15453600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:15416200-15478200	Weak transcription	NH-A	brain
13	chr2:15421000-15494800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:15424400-15452000	Weak transcription	Stomach Mucosa	stomach
15	chr2:15425000-15458000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:15426800-15473200	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:15426800-15520000	Weak transcription	Colonic Mucosa	Colon
18	chr2:15427400-15451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:15427400-15453400	Weak transcription	Fetal Brain Female	brain
20	chr2:15427400-15456600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:15427400-15467800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:15427400-15470200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:15427600-15467800	Weak transcription	Brain Substantia Nigra	brain
24	chr2:15432200-15448000	Weak transcription	Placenta	Placenta
25	chr2:15433000-15449200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:15433000-15449800	Weak transcription	Brain Angular Gyrus	brain
27	chr2:15433000-15458200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:15433000-15469000	Weak transcription	Fetal Brain Male	brain
29	chr2:15433400-15451800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:15437400-15468200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:15437800-15467600	Weak transcription	A549	lung
32	chr2:15437800-15475800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:15439400-15467800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:15439800-15450600	Strong transcription	Fetal Intestine Large	intestine
35	chr2:15440000-15449600	Strong transcription	Primary B cells from cord blood	blood
36	chr2:15440600-15448600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:15440800-15448600	Strong transcription	Fetal Stomach	stomach
38	chr2:15441000-15451200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:15441000-15499800	Weak transcription	NHLF	lung
40	chr2:15441200-15454000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:15441400-15463600	Weak transcription	Right Ventricle	heart
42	chr2:15441600-15448400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:15442000-15448400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:15442000-15448600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:15442400-15450200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:15442600-15449400	Strong transcription	Primary T cells from cord blood	blood
47	chr2:15442600-15451400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:15442600-15468400	Weak transcription	Fetal Heart	heart
49	chr2:15442800-15450400	Weak transcription	Dnd41	blood
50	chr2:15442800-15451600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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