Variant report

Variant	rs4539349
Chromosome Location	chr11:73874553-73874554
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	chr11:73872690..73875016-chr11:73880415..73882981,2	K562	blood:
2	chr11:61167024..61168573-chr11:73872580..73874980,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168014	Chromatin interaction
ENSG00000214517	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10431176	0.91[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10501413	0.97[YRI][hapmap];0.87[AFR][1000 genomes]
rs10501414	0.97[YRI][hapmap];0.87[AFR][1000 genomes]
rs10501415	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898955	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs10898957	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs10898958	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898959	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898960	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898962	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898964	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10898966	0.91[CEU][hapmap];0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs11235965	0.83[JPT][hapmap]
rs11235971	0.83[JPT][hapmap]
rs11235972	0.90[CHB][hapmap]
rs11235988	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235994	1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs11235995	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11235996	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11235997	0.82[ASN][1000 genomes]
rs11235998	0.82[ASN][1000 genomes]
rs11235999	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs11236000	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11236002	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236003	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236005	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236016	0.88[ASN][1000 genomes]
rs11236018	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236020	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236026	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236027	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236029	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11600314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601582	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603981	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11604125	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11604713	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11606804	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11607335	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11608147	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12222213	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12223320	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12574038	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12574039	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12574047	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12574556	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12574650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574824	0.85[ASN][1000 genomes]
rs12574898	0.88[ASN][1000 genomes]
rs12574960	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12575211	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1405653	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1405654	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474471	0.82[ASN][1000 genomes]
rs1527302	0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1615607	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1685333	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs17132715	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs17132796	0.97[YRI][hapmap];0.87[AFR][1000 genomes]
rs1800006	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs1800849	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs1944971	0.91[CEU][hapmap];0.94[CHB][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2091436	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178000	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302508	0.85[ASN][1000 genomes]
rs35826958	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3741133	0.91[CEU][hapmap];0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs3741135	0.83[JPT][hapmap]
rs3814724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819114	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4019299	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4565925	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs55823944	0.81[ASN][1000 genomes]
rs56298621	0.82[ASN][1000 genomes]
rs56366246	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57115412	0.87[AFR][1000 genomes]
rs57117016	0.81[ASN][1000 genomes]
rs59109060	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59605334	0.81[ASN][1000 genomes]
rs60044681	0.87[AFR][1000 genomes]
rs60834556	0.85[ASN][1000 genomes]
rs61901238	0.85[ASN][1000 genomes]
rs61901245	0.88[ASN][1000 genomes]
rs61901246	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61901247	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61901248	0.89[ASN][1000 genomes]
rs61901252	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61902362	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592547	0.83[EUR][1000 genomes]
rs7110062	0.97[YRI][hapmap];0.87[AFR][1000 genomes]
rs7110734	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115146	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7115407	0.93[CHB][hapmap];0.84[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7119710	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7125032	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs7125400	0.82[ASN][1000 genomes]
rs7126696	0.87[AFR][1000 genomes]
rs7129659	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7129774	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs72341762	0.85[EUR][1000 genomes]
rs7930460	0.83[JPT][hapmap]
rs7935920	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7941203	0.80[ASN][1000 genomes]
rs7941525	0.80[ASN][1000 genomes]
rs7949639	0.92[CEU][hapmap];0.84[CHB][hapmap]
rs7951239	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7951290	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7951743	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7952669	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826035	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs826044	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.81[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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
2	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
3	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:73825800-73878600	Weak transcription	Fetal Brain Male	brain
6	chr11:73844800-73880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:73847800-73875000	Weak transcription	Fetal Lung	lung
8	chr11:73847800-73875200	Weak transcription	Left Ventricle	heart
9	chr11:73847800-73880800	Weak transcription	Spleen	Spleen
10	chr11:73849600-73875000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:73850200-73879600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:73850800-73875400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:73850800-73875600	Weak transcription	Brain Germinal Matrix	brain
14	chr11:73852000-73877000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:73852800-73877200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:73852800-73878000	Weak transcription	Psoas Muscle	Psoas
17	chr11:73853400-73875200	Weak transcription	Adipose Nuclei	Adipose
18	chr11:73853800-73875200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:73854000-73881000	Weak transcription	Lung	lung
20	chr11:73858600-73880200	Weak transcription	NHLF	lung
21	chr11:73858600-73880800	Weak transcription	Ovary	ovary
22	chr11:73858600-73881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:73859000-73880000	Weak transcription	HepG2	liver
24	chr11:73860000-73880600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:73862200-73877400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:73864000-73875800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:73865200-73875800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:73865200-73879600	Strong transcription	Fetal Thymus	thymus
29	chr11:73866000-73880400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:73866200-73874600	Weak transcription	Fetal Brain Female	brain
31	chr11:73866200-73876200	Weak transcription	Osteobl	bone
32	chr11:73866200-73878600	Weak transcription	NHDF-Ad	bronchial
33	chr11:73866200-73880600	Weak transcription	Small Intestine	intestine
34	chr11:73866400-73876800	Weak transcription	NH-A	brain
35	chr11:73866600-73874800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:73866600-73875800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:73866800-73874600	Weak transcription	Placenta	Placenta
38	chr11:73866800-73875400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:73866800-73877400	Weak transcription	HMEC	breast
40	chr11:73867600-73877800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:73867800-73880800	Weak transcription	Gastric	stomach
42	chr11:73868000-73875000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:73868000-73875800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:73868000-73875800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:73868000-73875800	Weak transcription	Fetal Intestine Small	intestine
46	chr11:73868000-73875800	Weak transcription	Fetal Stomach	stomach
47	chr11:73868000-73881000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:73869200-73877600	Weak transcription	Hela-S3	cervix
49	chr11:73869400-73879800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:73869400-73879800	Strong transcription	Primary T cells from cord blood	blood

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