Variant report

Variant	rs11561681
Chromosome Location	chr4:87714142-87714143
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10012566	0.91[ASN][1000 genomes]
rs10050311	0.90[EUR][1000 genomes]
rs10516778	0.80[AMR][1000 genomes]
rs11930396	0.86[ASN][1000 genomes]
rs12171458	0.93[ASN][1000 genomes]
rs17012072	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17420607	0.83[AMR][1000 genomes]
rs17420966	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17454154	0.80[AMR][1000 genomes]
rs17454662	0.83[AMR][1000 genomes]
rs17694112	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2054592	0.83[AMR][1000 genomes]
rs2230600	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2287147	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3775238	0.80[AMR][1000 genomes]
rs4263359	0.82[AMR][1000 genomes]
rs4693150	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4693152	0.83[ASN][1000 genomes]
rs4693780	0.82[AMR][1000 genomes]
rs4693784	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55670248	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67867077	0.82[AMR][1000 genomes]
rs72665791	0.83[AMR][1000 genomes]
rs72665795	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7658220	0.82[ASN][1000 genomes]
rs7688019	0.82[ASN][1000 genomes]
rs9307026	0.88[ASN][1000 genomes]
rs969734	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87635200-87737400	Weak transcription	Fetal Brain Male	brain
2	chr4:87639400-87739200	Weak transcription	A549	lung
3	chr4:87642400-87735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:87642600-87719200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:87661600-87737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:87661800-87728800	Weak transcription	Pancreas	Pancrea
7	chr4:87689400-87738200	Weak transcription	Gastric	stomach
8	chr4:87690000-87738800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:87690800-87736000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:87692800-87734200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:87694400-87724800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:87694400-87725200	Weak transcription	NH-A	brain
13	chr4:87694400-87735600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:87695600-87728600	Weak transcription	Adipose Nuclei	Adipose
15	chr4:87696800-87733600	Weak transcription	NHLF	lung
16	chr4:87698200-87728600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:87698600-87738600	Weak transcription	Brain Angular Gyrus	brain
18	chr4:87699600-87715200	Weak transcription	Brain Substantia Nigra	brain
19	chr4:87700800-87714400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:87705200-87714400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:87706200-87714400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:87710000-87714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:87710600-87719200	Weak transcription	Osteobl	bone
24	chr4:87710800-87714400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr4:87711400-87714400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr4:87711400-87714600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:87711400-87714800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:87712000-87736600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:87712400-87728800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:87712600-87714400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:87712600-87714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:87712600-87714600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:87712600-87717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:87712600-87719200	Weak transcription	HMEC	breast
35	chr4:87712600-87719400	Weak transcription	NHDF-Ad	bronchial
36	chr4:87712600-87720400	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:87712600-87721000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:87712600-87721800	Weak transcription	Esophagus	oesophagus
39	chr4:87712600-87724600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:87712600-87728600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:87712600-87733600	Weak transcription	Lung	lung
42	chr4:87712600-87735800	Weak transcription	Brain Germinal Matrix	brain
43	chr4:87712600-87737600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:87712600-87738400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:87712600-87751400	Weak transcription	Aorta	Aorta
46	chr4:87712800-87714200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:87712800-87714600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:87712800-87717800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:87712800-87719200	Weak transcription	NHEK	skin
50	chr4:87712800-87719400	Weak transcription	Fetal Intestine Large	intestine

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