Variant report

Variant	rs4756385
Chromosome Location	chr11:32971173-32971174
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	chr11:32970671..32972775-chr11:32979842..32982658,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10454479	1.00[JPT][hapmap]
rs10767973	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767977	1.00[ASN][1000 genomes]
rs10835991	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835996	1.00[ASN][1000 genomes]
rs10835997	1.00[ASN][1000 genomes]
rs11031978	1.00[JPT][hapmap]
rs11032017	1.00[JPT][hapmap]
rs11032058	1.00[ASN][1000 genomes]
rs11032060	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11032072	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11032073	1.00[ASN][1000 genomes]
rs11032074	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032076	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12224002	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs174747	1.00[JPT][hapmap]
rs1961248	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1961543	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs197703	1.00[JPT][hapmap]
rs197706	1.00[JPT][hapmap]
rs2092657	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249555	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2419772	1.00[JPT][hapmap]
rs2419773	1.00[JPT][hapmap]
rs2419783	1.00[ASN][1000 genomes]
rs2664693	1.00[JPT][hapmap]
rs2746036	1.00[ASN][1000 genomes]
rs2746037	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786800	0.94[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755476	0.83[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756355	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756373	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589450	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602126	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484610	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652963	0.83[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7104368	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108574	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109890	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7118330	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7128509	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73474587	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395190	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481844	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7481878	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761284	1.00[JPT][hapmap]
rs761285	1.00[JPT][hapmap]
rs7941237	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7944318	1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7950261	1.00[JPT][hapmap]
rs9919531	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9943506	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3358675	chr11:32960425-32981454	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32950400-32994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:32953800-32978400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:32954600-32971400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:32954600-32990200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:32955400-32994200	Weak transcription	Gastric	stomach
6	chr11:32955400-32994400	Weak transcription	Esophagus	oesophagus
7	chr11:32955600-32987200	Weak transcription	Right Ventricle	heart
8	chr11:32955600-33000800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:32955600-33003800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:32956000-32975400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:32956200-32979400	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:32956200-32994200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:32956800-32975400	Weak transcription	Lung	lung
14	chr11:32956800-32975400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:32956800-32975400	Weak transcription	NHEK	skin
16	chr11:32956800-32977800	Weak transcription	Left Ventricle	heart
17	chr11:32956800-32977800	Weak transcription	Thymus	Thymus
18	chr11:32956800-32994200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:32957000-32978400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:32957000-32978400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:32957200-32978800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:32957200-32979200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:32957400-32975400	Weak transcription	Fetal Brain Male	brain
24	chr11:32957400-32975400	Weak transcription	HMEC	breast
25	chr11:32957400-32976400	Weak transcription	NHDF-Ad	bronchial
26	chr11:32957600-32978400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:32958000-32979600	Weak transcription	Fetal Kidney	kidney
28	chr11:32958400-32975400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:32958600-32975200	Weak transcription	A549	lung
30	chr11:32958600-32980600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:32958800-32977800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:32958800-32978600	Weak transcription	NH-A	brain
33	chr11:32959200-32977800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:32959200-32977800	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:32959200-32978000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:32959400-32975400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:32959600-32978400	Weak transcription	Brain Germinal Matrix	brain
38	chr11:32960000-32974600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:32960000-32975400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:32960200-32975400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:32960200-32975400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:32960200-32975400	Weak transcription	Primary T cells from cord blood	blood
43	chr11:32960200-32975400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:32960200-32975400	Weak transcription	HepG2	liver
45	chr11:32960200-32975400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:32960200-32978400	Weak transcription	K562	blood
47	chr11:32960200-32979600	Weak transcription	Fetal Brain Female	brain
48	chr11:32961800-32975400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:32962400-32994400	Weak transcription	Fetal Heart	heart
50	chr11:32962600-32975200	Weak transcription	Dnd41	blood

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