Variant report

Variant	rs34161300
Chromosome Location	chr11:5830740-5830741
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:5830455..5833171-chr11:5843435..5846091,2	K562	blood:
2	chr11:5830212..5830820-chr3:156846082..156846678,2	HCT-116	colon:
3	chr11:5823269..5825988-chr11:5829238..5831177,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1032648	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1032649	0.83[ASN][1000 genomes]
rs11039010	0.84[AMR][1000 genomes]
rs11039100	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039101	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039110	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039164	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11039205	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12361754	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12362071	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362696	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12362906	0.84[AMR][1000 genomes]
rs12363853	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366070	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12792905	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792952	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793142	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12794769	0.84[AMR][1000 genomes]
rs12796660	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12798822	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798823	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470872	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470873	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047461	0.83[ASN][1000 genomes]
rs2047462	0.85[ASN][1000 genomes]
rs34037040	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34123108	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34286221	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34317277	0.83[ASN][1000 genomes]
rs34818213	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34930440	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35466594	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35746872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35863959	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35863965	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35916605	0.83[ASN][1000 genomes]
rs35990969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319539	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4474469	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61875914	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61875915	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61875921	0.88[ASN][1000 genomes]
rs72896130	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs968991	0.83[ASN][1000 genomes]
rs968992	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer 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	74 gene(s)	inside rSNPs	diseases
3	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
6	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv553277	chr11:5722948-6010075	Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv1843296	chr11:5730377-5970717	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv2758255	chr11:5730377-5970717	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv2759801	chr11:5730377-6007613	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv832058	chr11:5747594-5926814	Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
13	nsv896951	chr11:5773981-5832191	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv2757421	chr11:5776623-5842356	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5828800-5832200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:5829600-5830800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr11:5829600-5830800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr11:5829600-5830800	Flanking Bivalent TSS/Enh	Dnd41	blood
5	chr11:5829800-5830800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:5829800-5830800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:5829800-5830800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:5829800-5830800	Active TSS	Right Atrium	heart
9	chr11:5829800-5830800	Flanking Active TSS	GM12878-XiMat	blood
10	chr11:5829800-5830800	Active TSS	NHDF-Ad	bronchial
11	chr11:5829800-5831000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:5830000-5830800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
13	chr11:5830000-5831000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:5830200-5830800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr11:5830200-5830800	Active TSS	Ovary	ovary
16	chr11:5830200-5831600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:5830200-5831600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:5830400-5830800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr11:5830400-5830800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr11:5830400-5830800	Active TSS	Primary T cells from cord blood	blood
21	chr11:5830400-5830800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:5830400-5830800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
23	chr11:5830400-5830800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
24	chr11:5830400-5830800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
25	chr11:5830400-5830800	Enhancers	Lung	lung
26	chr11:5830400-5830800	Enhancers	Pancreas	Pancrea
27	chr11:5830400-5830800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:5830400-5830800	Bivalent Enhancer	Small Intestine	intestine
29	chr11:5830400-5834600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:5830400-5834600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:5830400-5834800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:5830600-5830800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:5830600-5830800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:5830600-5830800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:5830600-5830800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:5830600-5830800	Bivalent Enhancer	Primary B cells from cord blood	blood
37	chr11:5830600-5830800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr11:5830600-5830800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr11:5830600-5830800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:5830600-5830800	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
41	chr11:5830600-5830800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr11:5830600-5830800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:5830600-5830800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr11:5830600-5830800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr11:5830600-5830800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:5830600-5830800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:5830600-5830800	Bivalent Enhancer	Liver	Liver
48	chr11:5830600-5830800	Enhancers	Brain Hippocampus Middle	brain
49	chr11:5830600-5830800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:5830600-5830800	Enhancers	Colonic Mucosa	Colon

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