Variant report

Variant	rs56350632
Chromosome Location	chr11:76689852-76689853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55703321	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55704636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56366003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56690742	1.00[AMR][1000 genomes]
rs57689898	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59296116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59877692	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60501442	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61000315	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61056520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61086262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61665044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7113632	1.00[AMR][1000 genomes]
rs73493631	1.00[AMR][1000 genomes]
rs7941242	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942185	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804531	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519700	chr11:76637651-76709407	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1042924	chr11:76659477-76709407	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1040833	chr11:76667160-76709407	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv396	chr11:76670116-76702745	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1802222	chr11:76683305-76709407	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76660000-76710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:76666800-76695400	Weak transcription	NHEK	skin
3	chr11:76672200-76697800	Weak transcription	Left Ventricle	heart
4	chr11:76672400-76696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:76673800-76690400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:76674400-76696000	Weak transcription	Small Intestine	intestine
7	chr11:76675000-76691600	Weak transcription	Fetal Lung	lung
8	chr11:76675000-76721800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:76675000-76725600	Weak transcription	A549	lung
10	chr11:76675000-76729600	Weak transcription	Brain Angular Gyrus	brain
11	chr11:76683000-76736400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:76683200-76729200	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:76683400-76690600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:76683600-76720400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:76683600-76728000	Weak transcription	Brain Anterior Caudate	brain
16	chr11:76684400-76699400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:76684800-76691000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:76687600-76691400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:76687800-76690200	Weak transcription	Right Atrium	heart
20	chr11:76688000-76690000	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr11:76688000-76690200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:76688000-76690200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr11:76688200-76690000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr11:76688200-76690000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:76688200-76690200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:76688200-76690200	ZNF genes & repeats	Dnd41	blood
27	chr11:76688400-76690000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:76688400-76690200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:76688400-76690200	ZNF genes & repeats	Spleen	Spleen
30	chr11:76688400-76690400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr11:76688400-76695600	Weak transcription	HMEC	breast
32	chr11:76688600-76690200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:76688600-76690200	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr11:76688600-76690200	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr11:76688600-76690200	ZNF genes & repeats	Fetal Stomach	stomach
36	chr11:76688600-76690200	ZNF genes & repeats	Lung	lung
37	chr11:76688600-76695600	Weak transcription	Stomach Mucosa	stomach
38	chr11:76688600-76710800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:76688800-76690000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:76688800-76690000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:76688800-76690200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:76689000-76690000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr11:76689000-76690200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:76689200-76690400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:76689200-76691200	Weak transcription	Colonic Mucosa	Colon
46	chr11:76689200-76696000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:76689200-76734600	Weak transcription	Liver	Liver
48	chr11:76689400-76690000	Enhancers	Aorta	Aorta
49	chr11:76689400-76690200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:76689400-76690200	Strong transcription	Esophagus	oesophagus

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