Variant report

Variant	rs6711054
Chromosome Location	chr2:114726115-114726116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114718968..114721706-chr2:114724890..114726675,2	MCF-7	breast:
2	chr2:114719759..114722494-chr2:114725495..114728932,3	K562	blood:
3	chr2:114725172..114726759-chr2:114728569..114731437,2	K562	blood:
4	chr2:114719759..114724600-chr2:114725495..114731130,7	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10496454	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11676281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11678413	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11680166	0.85[EUR][1000 genomes]
rs11681425	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11684493	0.84[AMR][1000 genomes]
rs11695436	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12995205	0.84[AMR][1000 genomes]
rs12996997	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13011246	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13020510	0.84[AMR][1000 genomes]
rs13023671	0.80[CEU][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17045951	0.89[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs17046767	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17197639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1949722	0.84[AMR][1000 genomes]
rs2046545	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292100	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34775317	0.84[AMR][1000 genomes]
rs34803179	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35596137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35680405	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35820702	0.85[EUR][1000 genomes]
rs3748997	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60022746	0.84[AMR][1000 genomes]
rs6723553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71416564	0.84[AMR][1000 genomes]
rs71416565	0.84[AMR][1000 genomes]
rs71416571	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72952576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72954508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590041	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[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	esv275040	chr2:114725846-114729087	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6711054	LOC440900	cis	multi-tissue	Pritchard

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
3	chr2:114705200-114731200	Weak transcription	Lung	lung
4	chr2:114705200-114733000	Weak transcription	Pancreas	Pancrea
5	chr2:114705200-114734200	Weak transcription	Right Ventricle	heart
6	chr2:114705200-114736000	Weak transcription	Gastric	stomach
7	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
8	chr2:114706200-114731400	Weak transcription	Aorta	Aorta
9	chr2:114706200-114731400	Weak transcription	Spleen	Spleen
10	chr2:114707400-114726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:114709200-114731200	Weak transcription	Fetal Kidney	kidney
12	chr2:114710400-114728000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:114710400-114735800	Weak transcription	Colonic Mucosa	Colon
14	chr2:114710600-114727400	Weak transcription	Thymus	Thymus
15	chr2:114711200-114735400	Weak transcription	Fetal Lung	lung
16	chr2:114711800-114735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:114713600-114732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:114713800-114731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:114713800-114732200	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:114713800-114734600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:114713800-114735200	Weak transcription	Ovary	ovary
22	chr2:114713800-114736200	Weak transcription	Fetal Stomach	stomach
23	chr2:114714400-114735200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:114714800-114732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:114715200-114728400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:114715200-114735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:114715600-114732800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:114715600-114734800	Weak transcription	Left Ventricle	heart
30	chr2:114715600-114735400	Weak transcription	K562	blood
31	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:114716800-114729200	Weak transcription	Placenta	Placenta
33	chr2:114717600-114729400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:114718600-114726800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:114718600-114729000	Weak transcription	Fetal Thymus	thymus
36	chr2:114718600-114733000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:114718600-114735400	Weak transcription	Adipose Nuclei	Adipose
38	chr2:114718800-114728600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:114718800-114729000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:114719200-114727600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:114719200-114728200	Weak transcription	GM12878-XiMat	blood
43	chr2:114719400-114727800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:114719400-114729200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:114719400-114732400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:114719600-114729600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:114719800-114729200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:114720000-114728600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:114721000-114729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:114721200-114729800	Weak transcription	HMEC	breast

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