Variant report

Variant	rs4910654
Chromosome Location	chr11:3728851-3728852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3728202..3731032-chr11:3737163..3739664,2	MCF-7	breast:

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs12269960	1.00[ASN][1000 genomes]
rs12271649	1.00[ASN][1000 genomes]
rs12277623	1.00[ASN][1000 genomes]
rs12277783	1.00[ASN][1000 genomes]
rs12282367	1.00[ASN][1000 genomes]
rs12284297	1.00[ASN][1000 genomes]
rs12285688	1.00[ASN][1000 genomes]
rs12293671	1.00[ASN][1000 genomes]
rs12295219	1.00[ASN][1000 genomes]
rs1567923	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16925377	1.00[ASN][1000 genomes]
rs16929762	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929785	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231546	1.00[ASN][1000 genomes]
rs2231547	1.00[ASN][1000 genomes]
rs35404087	1.00[ASN][1000 genomes]
rs35803045	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910530	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910549	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4910565	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910639	1.00[ASN][1000 genomes]
rs4910665	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910695	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910710	0.93[EUR][1000 genomes]
rs4910711	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910712	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910797	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910798	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910799	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910800	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910805	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910806	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910808	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910810	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910811	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910814	1.00[ASN][1000 genomes]
rs55798582	1.00[ASN][1000 genomes]
rs56702085	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59617039	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60726516	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61508984	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61751339	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877577	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877578	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877579	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877580	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877581	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877582	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877583	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877584	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877592	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877594	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877595	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877596	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877597	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877598	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877601	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877602	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61877604	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877626	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877627	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877628	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877629	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877630	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877631	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877632	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61878509	1.00[ASN][1000 genomes]
rs61878531	1.00[ASN][1000 genomes]
rs61878539	1.00[ASN][1000 genomes]
rs61878540	1.00[ASN][1000 genomes]
rs61878542	1.00[ASN][1000 genomes]
rs61878543	1.00[ASN][1000 genomes]
rs61878551	1.00[ASN][1000 genomes]
rs61878553	1.00[ASN][1000 genomes]
rs61878554	1.00[ASN][1000 genomes]
rs61878555	1.00[ASN][1000 genomes]
rs61878556	1.00[ASN][1000 genomes]
rs61879789	1.00[ASN][1000 genomes]
rs61879790	1.00[ASN][1000 genomes]
rs61879791	1.00[ASN][1000 genomes]
rs61879792	1.00[ASN][1000 genomes]
rs61879795	1.00[ASN][1000 genomes]
rs61879797	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879798	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879799	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879800	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879801	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879830	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879831	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879832	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879982	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879984	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896888	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61896889	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61896890	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61896891	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61896892	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61896893	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61896894	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61896897	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61896898	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61896899	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61896900	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61896901	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61896917	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896918	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896919	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896920	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896921	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896922	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896923	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896925	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998205	1.00[ASN][1000 genomes]
rs7105207	1.00[ASN][1000 genomes]
rs7111156	1.00[ASN][1000 genomes]
rs7118870	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122294	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844330	1.00[ASN][1000 genomes]
rs72844332	1.00[ASN][1000 genomes]
rs72844335	1.00[ASN][1000 genomes]
rs72844387	1.00[ASN][1000 genomes]
rs72844389	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047763	chr11:2918998-3751029	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv2758252	chr11:3236512-3801429	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2759796	chr11:3236512-3801429	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv1820972	chr11:3616884-3801429	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1821329	chr11:3616884-3801429	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv832052	chr11:3616884-3801429	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv428247	chr11:3616884-3801429	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv526441	chr11:3626177-3756686	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1046356	chr11:3628837-3774215	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1044345	chr11:3628912-3739222	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv540906	chr11:3628912-3739222	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv1044419	chr11:3628912-3751029	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv1043716	chr11:3685149-3751029	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv540908	chr11:3685149-3751029	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3685000-3743800	Strong transcription	Duodenum Mucosa	Duodenum
2	chr11:3685200-3730000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:3685200-3766800	Strong transcription	Placenta	Placenta
4	chr11:3685400-3731200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:3685400-3733400	Strong transcription	Fetal Intestine Large	intestine
6	chr11:3685400-3739000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:3685400-3741600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:3685400-3743800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:3685400-3802600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:3685600-3805600	Strong transcription	Fetal Thymus	thymus
11	chr11:3685800-3754200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:3685800-3776200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:3685800-3779800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:3686000-3779800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:3686600-3802600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:3686800-3757400	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:3687000-3730400	Strong transcription	Liver	Liver
18	chr11:3687000-3805600	Strong transcription	Dnd41	blood
19	chr11:3687200-3767000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:3687600-3743800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:3687600-3802200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:3687600-3802200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:3687800-3801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:3692200-3731600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr11:3693400-3729000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:3693400-3731400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:3693600-3729400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:3693600-3731400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:3693800-3731200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:3694000-3730600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:3694000-3731400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:3695000-3730200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr11:3696000-3730600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:3696200-3731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:3696200-3779800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:3696800-3766800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:3705800-3742600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr11:3705800-3802400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:3706200-3757800	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:3706400-3730400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:3706800-3735000	Strong transcription	Fetal Intestine Small	intestine
42	chr11:3707400-3758000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:3709400-3753800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:3714000-3744800	Strong transcription	Primary B cells from cord blood	blood
45	chr11:3715800-3745000	Strong transcription	Hela-S3	cervix
46	chr11:3716000-3744200	Strong transcription	HSMM	muscle
47	chr11:3716200-3744400	Strong transcription	HUVEC	blood vessel
48	chr11:3716600-3731800	Strong transcription	A549	lung
49	chr11:3718000-3751600	Strong transcription	K562	blood
50	chr11:3718800-3731800	Weak transcription	Psoas Muscle	Psoas

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