Variant report

Variant	rs4243478
Chromosome Location	chr6:146284560-146284561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146247179..146250134-chr6:146283197..146284955,2	K562	blood:
2	chr6:146133534..146136752-chr6:146283932..146287911,4	K562	blood:
3	chr6:146133507..146136027-chr6:146282188..146284857,3	K562	blood:
4	chr6:146275961..146278113-chr6:146283036..146285650,2	MCF-7	breast:
5	chr6:146051601..146058492-chr6:146282422..146286666,8	K562	blood:

Variant related genes	Relation type
ENSG00000112425	Chromatin interaction
ENSG00000235652	Chromatin interaction
ENSG00000270638	Chromatin interaction
ENSG00000270828	Chromatin interaction
ENSG00000118496	Chromatin interaction
ENSG00000146414	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10223507	0.89[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs10223508	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1062067	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1062068	0.89[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs10872580	0.89[CEU][hapmap]
rs10872582	0.83[ASN][1000 genomes]
rs1133832	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11760	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12199362	0.89[CEU][hapmap]
rs1331634	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1331636	0.81[EUR][1000 genomes]
rs1331637	0.81[EUR][1000 genomes]
rs1331643	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1832362	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs2050027	0.89[CEU][hapmap]
rs2073287	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2144478	0.84[ASN][1000 genomes]
rs2207785	0.81[EUR][1000 genomes]
rs2224120	0.85[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2224121	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2243665	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2247206	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2247211	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2247317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2247429	0.83[EUR][1000 genomes]
rs2247666	0.89[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs2249147	0.83[ASN][1000 genomes]
rs2249386	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs2250387	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253194	0.86[ASN][1000 genomes]
rs2253307	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2253648	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253654	0.86[CEU][hapmap]
rs2253764	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[ASN][1000 genomes]
rs2253768	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2253880	0.83[ASN][1000 genomes]
rs2253886	0.84[ASN][1000 genomes]
rs2253887	0.84[ASN][1000 genomes]
rs2254257	0.83[EUR][1000 genomes]
rs2254283	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2254288	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2256998	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2265467	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2265468	0.84[EUR][1000 genomes]
rs2265469	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2265471	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2265472	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2265477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2265916	0.83[ASN][1000 genomes]
rs2265917	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2265918	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2265919	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2328712	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2474356	0.81[EUR][1000 genomes]
rs2485632	0.84[ASN][1000 genomes]
rs2492855	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2748482	0.81[EUR][1000 genomes]
rs2748483	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2748484	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2748485	0.81[EUR][1000 genomes]
rs2748486	0.82[ASN][1000 genomes]
rs2748499	0.81[EUR][1000 genomes]
rs2748500	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2748502	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2777474	0.92[ASN][1000 genomes]
rs2777475	0.83[CEU][hapmap]
rs2777476	0.81[EUR][1000 genomes]
rs2777477	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2777484	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814863	0.85[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap]
rs2814864	0.83[CEU][hapmap]
rs2814866	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814869	0.81[EUR][1000 genomes]
rs2814874	0.88[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs2814875	0.85[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2814876	0.81[EUR][1000 genomes]
rs2814877	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs2814879	0.86[ASN][1000 genomes]
rs2814880	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2892453	0.84[ASN][1000 genomes]
rs3811102	0.89[CEU][hapmap]
rs3923579	0.86[EUR][1000 genomes]
rs3924498	0.87[EUR][1000 genomes]
rs3924499	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs3924502	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs4075694	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs4075695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4075696	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4280983	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs4314514	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4316025	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4360151	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4391282	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435956	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4566902	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4895683	0.85[CEU][hapmap]
rs4896851	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4896852	0.90[EUR][1000 genomes]
rs56181683	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6570723	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6570726	0.81[CEU][hapmap]
rs6570736	0.81[ASN][1000 genomes]
rs6570738	0.81[ASN][1000 genomes]
rs6906258	0.89[CEU][hapmap]
rs6906402	0.89[CEU][hapmap]
rs6910790	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6915718	0.89[CEU][hapmap]
rs6917135	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6917482	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6922507	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs6923545	0.89[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs6924159	0.88[EUR][1000 genomes]
rs6926076	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6926657	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6930181	0.85[CEU][hapmap]
rs6930975	0.81[ASN][1000 genomes]
rs7739418	0.84[ASN][1000 genomes]
rs7739735	0.85[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs7740785	0.81[ASN][1000 genomes]
rs7742333	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7744014	0.85[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs7745696	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs7747576	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753092	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs7753696	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs7762562	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs854144	0.81[CEU][hapmap]
rs854145	0.86[ASN][1000 genomes]
rs863820	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs864390	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9322046	0.81[ASN][1000 genomes]
rs9373475	0.89[CEU][hapmap]
rs9373476	0.89[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap]
rs9376968	0.83[ASN][1000 genomes]
rs9376970	0.89[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs9376971	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9386133	0.89[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs9386141	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9390356	0.89[CEU][hapmap]
rs9390357	0.85[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs9390358	0.89[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs9390365	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs9399569	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9399571	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9403747	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs9403749	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs9403750	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs9403755	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9403756	0.89[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs9403757	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9403765	0.84[ASN][1000 genomes]
rs9485024	0.89[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs9497424	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9497425	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9497427	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9497431	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs9497434	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs9497435	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9791313	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830835	chr6:146145148-146287473	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146264800-146284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:146268800-146284600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:146271000-146284600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:146271600-146284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:146274600-146284600	Weak transcription	Placenta	Placenta
6	chr6:146281800-146284600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:146282400-146284600	Weak transcription	Esophagus	oesophagus
8	chr6:146282400-146284600	Weak transcription	Lung	lung
9	chr6:146282400-146284600	Weak transcription	Pancreas	Pancrea
10	chr6:146282400-146284800	Weak transcription	Spleen	Spleen
11	chr6:146282600-146284600	Weak transcription	Gastric	stomach
12	chr6:146282600-146286400	Active TSS	GM12878-XiMat	blood
13	chr6:146282800-146284800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:146283000-146286400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:146283200-146284600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr6:146283200-146284600	Enhancers	Small Intestine	intestine
17	chr6:146283400-146284600	Flanking Active TSS	Fetal Brain Female	brain
18	chr6:146283400-146284800	Flanking Active TSS	Liver	Liver
19	chr6:146283400-146286200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:146283600-146284600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:146283600-146286000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:146283600-146286000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:146283600-146286000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:146283600-146286000	Active TSS	K562	blood
25	chr6:146283600-146286200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:146283600-146286200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:146283600-146286400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:146283800-146284600	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr6:146283800-146284600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:146283800-146284600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:146283800-146284600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr6:146283800-146284600	Flanking Active TSS	NH-A	brain
33	chr6:146283800-146284800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:146283800-146285400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:146283800-146286200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr6:146283800-146286200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:146283800-146286200	Active TSS	Aorta	Aorta
38	chr6:146283800-146286400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr6:146283800-146286400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:146283800-146286400	Active TSS	Psoas Muscle	Psoas
41	chr6:146284000-146284600	Enhancers	Primary B cells from peripheral blood	blood
42	chr6:146284000-146284600	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr6:146284000-146284600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr6:146284000-146284800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:146284000-146284800	Flanking Active TSS	HUVEC	blood vessel
46	chr6:146284000-146285000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr6:146284000-146285200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:146284000-146285800	Active TSS	Fetal Muscle Leg	muscle
49	chr6:146284000-146286000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:146284000-146286000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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