Variant report

Variant	rs1619904
Chromosome Location	chr4:16169565-16169566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10019399	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10516299	0.97[ASN][1000 genomes]
rs10939651	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939652	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12506249	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12646600	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13634	0.80[AFR][1000 genomes]
rs1373112	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1662650	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1662654	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1662656	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178450	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2044195	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28453363	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28618674	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28645901	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs317853	0.80[AFR][1000 genomes]
rs317854	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs317855	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs317869	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs317870	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs317871	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs317872	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs317874	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs317875	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs317876	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs317877	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs317878	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4395495	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7657191	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16157800-16170600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:16157800-16180000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:16157800-16180400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:16158000-16175400	Weak transcription	NHDF-Ad	bronchial
5	chr4:16160200-16173800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:16160400-16182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:16160600-16172200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:16160800-16176800	Strong transcription	Primary B cells from cord blood	blood
9	chr4:16161000-16182600	Strong transcription	Fetal Thymus	thymus
10	chr4:16161600-16176200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:16161600-16181800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:16161600-16182600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr4:16161600-16182800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:16161600-16186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:16161800-16170000	Strong transcription	Adipose Nuclei	Adipose
16	chr4:16161800-16193200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:16162000-16175800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:16162200-16171200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:16162200-16182800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:16162600-16183200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr4:16163000-16171800	Strong transcription	Left Ventricle	heart
22	chr4:16163000-16172800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:16163000-16175600	Strong transcription	Primary T cells from cord blood	blood
24	chr4:16163000-16176400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:16163000-16182800	Strong transcription	Liver	Liver
26	chr4:16163000-16183200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:16163000-16183200	Strong transcription	Placenta	Placenta
28	chr4:16163200-16178200	Weak transcription	Fetal Heart	heart
29	chr4:16163200-16183400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:16163200-16183400	Weak transcription	Hela-S3	cervix
31	chr4:16163200-16195800	Weak transcription	HMEC	breast
32	chr4:16163400-16176000	Strong transcription	Dnd41	blood
33	chr4:16163600-16171800	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:16163600-16172000	Strong transcription	Spleen	Spleen
35	chr4:16163600-16173000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr4:16163600-16173400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:16163800-16169600	Strong transcription	Brain Substantia Nigra	brain
38	chr4:16163800-16170000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr4:16163800-16170600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr4:16163800-16172200	Strong transcription	Rectal Smooth Muscle	rectum
41	chr4:16163800-16172400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:16163800-16173400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr4:16163800-16175000	Strong transcription	Thymus	Thymus
44	chr4:16163800-16175600	Strong transcription	Fetal Lung	lung
45	chr4:16163800-16176400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:16163800-16176400	Strong transcription	Fetal Muscle Leg	muscle
47	chr4:16163800-16178800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:16164000-16170200	Weak transcription	Stomach Mucosa	stomach
49	chr4:16164000-16170400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:16164000-16172800	Strong transcription	Fetal Intestine Large	intestine

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