Variant report

Variant	rs11940878
Chromosome Location	chr4:87661924-87661925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10049558	1.00[AMR][1000 genomes]
rs11930689	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965805	0.90[AFR][1000 genomes];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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv830001	chr4:87585278-87748643	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv508296	chr4:87636350-87667372	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87631200-87712200	Weak transcription	Aorta	Aorta
2	chr4:87635200-87737400	Weak transcription	Fetal Brain Male	brain
3	chr4:87636400-87683800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:87639200-87688000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:87639400-87739200	Weak transcription	A549	lung
6	chr4:87641800-87683400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:87642200-87692600	Weak transcription	NH-A	brain
8	chr4:87642400-87735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:87642600-87692400	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:87642600-87697600	Weak transcription	Brain Angular Gyrus	brain
11	chr4:87642600-87719200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:87644600-87680600	Weak transcription	NHLF	lung
13	chr4:87650400-87677400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:87651800-87676400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:87652600-87670000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:87655600-87704400	Weak transcription	Hela-S3	cervix
17	chr4:87657200-87665800	Weak transcription	Adipose Nuclei	Adipose
18	chr4:87658200-87664400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:87658400-87662800	Weak transcription	NHDF-Ad	bronchial
20	chr4:87658600-87664600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:87659000-87663000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:87659000-87663400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:87659000-87676400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:87659200-87662000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr4:87659200-87663000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:87659200-87664200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:87659400-87662800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr4:87659400-87663000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr4:87659600-87664400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:87659800-87663000	Strong transcription	Ovary	ovary
31	chr4:87660000-87662000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:87660200-87662600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr4:87660600-87662000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:87661000-87662000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:87661000-87662800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:87661000-87663800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:87661200-87662000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:87661200-87664000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:87661400-87662600	Weak transcription	Osteobl	bone
40	chr4:87661600-87662400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:87661600-87662600	Weak transcription	Brain Anterior Caudate	brain
42	chr4:87661600-87662600	Weak transcription	Fetal Kidney	kidney
43	chr4:87661600-87664400	Weak transcription	HMEC	breast
44	chr4:87661600-87665800	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:87661600-87665800	Weak transcription	NHEK	skin
46	chr4:87661600-87671600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:87661600-87671600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:87661600-87680400	Weak transcription	Brain Substantia Nigra	brain
49	chr4:87661600-87680600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:87661600-87683200	Weak transcription	H9 Cell Line	embryonic stem cell

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