Variant report

Variant	rs34729888
Chromosome Location	chr11:9253805-9253806
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	chr11:9253716..9256497-chr11:9285301..9286956,2	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10770000	0.97[ASN][1000 genomes]
rs10770001	0.97[ASN][1000 genomes]
rs11042227	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042245	0.83[ASN][1000 genomes]
rs11602591	0.86[AMR][1000 genomes]
rs11608172	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12289113	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295767	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12296016	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12420463	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12577661	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12796666	0.84[AMR][1000 genomes]
rs12801814	0.85[AMR][1000 genomes]
rs2133216	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2873069	0.97[ASN][1000 genomes]
rs34446443	0.84[AMR][1000 genomes]
rs34494849	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34716494	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35381016	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35757766	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35955530	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61875672	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61875673	0.85[AMR][1000 genomes]
rs61877814	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486210	0.93[ASN][1000 genomes]
rs6486215	0.93[ASN][1000 genomes]
rs6486226	1.00[ASN][1000 genomes]
rs6486231	0.85[ASN][1000 genomes]
rs7104221	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7109911	0.89[ASN][1000 genomes]
rs7112540	0.90[ASN][1000 genomes]
rs7114688	0.97[ASN][1000 genomes]
rs7115062	1.00[ASN][1000 genomes]
rs7116459	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7124178	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7396439	0.93[ASN][1000 genomes]
rs7482630	0.85[ASN][1000 genomes]
rs770	0.97[ASN][1000 genomes]
rs7924664	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933448	0.97[ASN][1000 genomes]
rs7941520	0.97[ASN][1000 genomes]
rs7951700	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs952374	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9736263	0.95[ASN][1000 genomes]
rs9888193	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9888229	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9237000-9254000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:9241400-9254200	Weak transcription	HMEC	breast
3	chr11:9250800-9257800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:9251000-9254200	Weak transcription	Fetal Kidney	kidney
5	chr11:9251000-9271600	Weak transcription	Hela-S3	cervix
6	chr11:9251000-9274400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:9251200-9254200	Weak transcription	Ovary	ovary
8	chr11:9251400-9271800	Weak transcription	Gastric	stomach
9	chr11:9251800-9254000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:9252200-9254400	Enhancers	Fetal Lung	lung
11	chr11:9252200-9254600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:9252400-9254000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr11:9252400-9254200	Weak transcription	Right Ventricle	heart
14	chr11:9252400-9254400	Enhancers	Dnd41	blood
15	chr11:9252600-9254200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr11:9252600-9254400	Enhancers	Colon Smooth Muscle	Colon
17	chr11:9252600-9254400	Enhancers	Fetal Brain Female	brain
18	chr11:9252600-9264000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:9252600-9272400	Weak transcription	Spleen	Spleen
20	chr11:9252600-9272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:9252800-9254200	Enhancers	NH-A	brain
22	chr11:9252800-9254400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:9252800-9254400	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:9252800-9254400	Enhancers	HUVEC	blood vessel
25	chr11:9252800-9254400	Enhancers	Osteobl	bone
26	chr11:9252800-9263800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:9253000-9254000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:9253000-9254000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:9253000-9254200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:9253000-9254200	Weak transcription	Brain Germinal Matrix	brain
31	chr11:9253000-9254200	Weak transcription	Pancreas	Pancrea
32	chr11:9253000-9254200	Weak transcription	Psoas Muscle	Psoas
33	chr11:9253000-9254400	Enhancers	Liver	Liver
34	chr11:9253000-9254600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:9253000-9261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:9253000-9262200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:9253000-9265000	Weak transcription	K562	blood
38	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:9253200-9254000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:9253200-9254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:9253200-9254200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:9253200-9254200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:9253200-9254200	Weak transcription	Small Intestine	intestine
44	chr11:9253200-9255200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:9253200-9256000	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:9253200-9256000	Weak transcription	Fetal Thymus	thymus
47	chr11:9253200-9256200	Weak transcription	Fetal Stomach	stomach
48	chr11:9253200-9261200	Weak transcription	Left Ventricle	heart
49	chr11:9253200-9269600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:9253200-9274600	Weak transcription	Fetal Muscle Trunk	muscle

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