Variant report

Variant	rs4693784
Chromosome Location	chr4:87724088-87724089
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	0.85[ASN][1000 genomes]
rs10050311	0.91[EUR][1000 genomes]
rs10516778	0.80[AMR][1000 genomes]
rs11561681	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11930396	0.94[ASN][1000 genomes]
rs12171458	0.88[ASN][1000 genomes]
rs17012072	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17420607	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17420966	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17454154	0.80[AMR][1000 genomes]
rs17454662	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17694112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2054592	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2230600	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2287147	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775238	0.80[AMR][1000 genomes]
rs4263359	0.82[AMR][1000 genomes]
rs4693150	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4693152	0.91[ASN][1000 genomes]
rs4693780	0.82[AMR][1000 genomes]
rs55670248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67867077	0.82[AMR][1000 genomes]
rs72665791	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72665795	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7658220	0.90[ASN][1000 genomes]
rs7688019	0.90[ASN][1000 genomes]
rs9307026	0.94[ASN][1000 genomes]
rs969734	0.83[AMR][1000 genomes];0.80[EUR][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:77 , 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	chr4:87661600-87737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:87661800-87728800	Weak transcription	Pancreas	Pancrea
6	chr4:87689400-87738200	Weak transcription	Gastric	stomach
7	chr4:87690000-87738800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:87690800-87736000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:87692800-87734200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:87694400-87724800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:87694400-87725200	Weak transcription	NH-A	brain
12	chr4:87694400-87735600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:87695600-87728600	Weak transcription	Adipose Nuclei	Adipose
14	chr4:87696800-87733600	Weak transcription	NHLF	lung
15	chr4:87698200-87728600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:87698600-87738600	Weak transcription	Brain Angular Gyrus	brain
17	chr4:87712000-87736600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:87712400-87728800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:87712600-87724600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:87712600-87728600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:87712600-87733600	Weak transcription	Lung	lung
22	chr4:87712600-87735800	Weak transcription	Brain Germinal Matrix	brain
23	chr4:87712600-87737600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:87712600-87738400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:87712600-87751400	Weak transcription	Aorta	Aorta
26	chr4:87712800-87732000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:87712800-87736400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:87712800-87737000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:87712800-87739600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:87713200-87728600	Weak transcription	Ovary	ovary
31	chr4:87714400-87731800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:87715600-87732600	Weak transcription	Brain Substantia Nigra	brain
33	chr4:87715800-87737400	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:87717200-87737000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:87717600-87730800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:87717600-87731000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:87717800-87732400	Weak transcription	Fetal Thymus	thymus
38	chr4:87718000-87732400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:87719200-87738600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:87719400-87738000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:87719800-87726400	Weak transcription	HMEC	breast
42	chr4:87719800-87728600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:87720000-87728600	Weak transcription	Brain Anterior Caudate	brain
44	chr4:87720000-87728600	Weak transcription	Fetal Intestine Large	intestine
45	chr4:87720000-87736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:87720800-87725800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:87720800-87732200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:87721000-87724800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:87721000-87725000	Weak transcription	NHDF-Ad	bronchial
50	chr4:87721000-87727600	Weak transcription	Fetal Kidney	kidney

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