Variant report

Variant	rs16995920
Chromosome Location	chr4:85643051-85643052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11725121	0.80[EUR][1000 genomes]
rs12500519	0.82[EUR][1000 genomes]
rs12502294	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12502409	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12511112	0.91[JPT][hapmap]
rs13108722	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13118671	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1484661	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17009317	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17009334	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2218323	0.91[JPT][hapmap]
rs2869216	0.91[JPT][hapmap]
rs3098928	0.91[JPT][hapmap]
rs35190829	0.81[EUR][1000 genomes]
rs36036245	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3747680	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6816534	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6825852	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6829807	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6838727	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847067	0.91[JPT][hapmap]
rs6847564	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6858666	0.91[JPT][hapmap]
rs72664928	0.82[EUR][1000 genomes]
rs7685537	0.91[JPT][hapmap]
rs7695054	0.81[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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv532738	chr4:85590841-85777997	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85587800-85648400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:85603800-85643800	Weak transcription	Stomach Mucosa	stomach
3	chr4:85604400-85674800	Weak transcription	Small Intestine	intestine
4	chr4:85613400-85646200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:85613400-85646600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:85613400-85649400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:85613600-85650200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:85615000-85677600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:85616800-85646600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:85619200-85726000	Weak transcription	Hela-S3	cervix
11	chr4:85619400-85646400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr4:85619600-85646400	Strong transcription	Liver	Liver
13	chr4:85620200-85648000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:85620800-85663400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:85625000-85646600	Strong transcription	Placenta	Placenta
16	chr4:85627800-85646800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:85629200-85662400	Weak transcription	Colonic Mucosa	Colon
18	chr4:85630000-85656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:85630000-85659000	Weak transcription	Right Ventricle	heart
20	chr4:85630200-85656400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:85630800-85645600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:85632600-85649000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:85632600-85658200	Weak transcription	A549	lung
24	chr4:85633400-85667800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:85636000-85646600	Strong transcription	HUVEC	blood vessel
26	chr4:85636400-85701200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:85637400-85658400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:85638000-85646200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:85638000-85646600	Strong transcription	Fetal Intestine Large	intestine
30	chr4:85638600-85644200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:85638800-85646400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:85639200-85643200	Strong transcription	Fetal Lung	lung
33	chr4:85639200-85643400	Strong transcription	Osteobl	bone
34	chr4:85639200-85647000	Strong transcription	HSMM	muscle
35	chr4:85639400-85646400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:85639400-85647200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:85639600-85644200	Strong transcription	HSMMtube	muscle
38	chr4:85639800-85645800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:85639800-85646400	Strong transcription	Fetal Kidney	kidney
40	chr4:85639800-85646400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr4:85640200-85663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:85640600-85646400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:85640800-85643200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:85640800-85643400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:85640800-85646200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr4:85641000-85643200	Strong transcription	Fetal Brain Female	brain
47	chr4:85641000-85645200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr4:85641200-85643200	Genic enhancers	Fetal Heart	heart
49	chr4:85641200-85643800	Strong transcription	Brain Angular Gyrus	brain
50	chr4:85641200-85644000	Strong transcription	Brain Hippocampus Middle	brain

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