Variant report

Variant	rs4802144
Chromosome Location	chr19:38402174-38402175
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr19:38401885-38402299	GM12878	blood:	n/a	n/a
2	CEBPB	chr19:38402106-38402282	K562	blood:	n/a	n/a
3	CEBPB	chr19:38402119-38402265	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
WDR87	TF binding region

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

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

rs_ID	r²[population]
rs10404159	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10415399	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10415548	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11083441	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1119229	0.81[EUR][1000 genomes]
rs12608883	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12973580	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643460	0.84[EUR][1000 genomes]
rs1643461	0.88[EUR][1000 genomes]
rs1725499	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28460297	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs353410	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs353411	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3786869	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4239516	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802147	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4802151	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4803551	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803573	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs705491	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs705493	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs705495	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs705499	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8108434	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8109053	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8109835	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8113273	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8113521	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398600-38422600	Weak transcription	Aorta	Aorta
2	chr19:38398800-38405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:38399000-38418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:38399000-38422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:38399200-38402800	Weak transcription	Fetal Intestine Small	intestine
7	chr19:38399200-38404800	Weak transcription	Primary T cells from cord blood	blood
8	chr19:38399200-38405000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr19:38399200-38405400	Weak transcription	Adipose Nuclei	Adipose
10	chr19:38399200-38405400	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:38399200-38405400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:38399200-38409400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr19:38399200-38411000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:38399200-38411000	Weak transcription	Stomach Mucosa	stomach
15	chr19:38399200-38411400	Weak transcription	NHEK	skin
16	chr19:38399200-38411800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:38399200-38411800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:38399200-38415600	Weak transcription	Hela-S3	cervix
19	chr19:38399200-38416000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:38399200-38422400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:38399200-38422600	Weak transcription	Fetal Lung	lung
22	chr19:38399200-38424600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:38399400-38405400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:38399600-38403200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:38399600-38403400	Weak transcription	Fetal Stomach	stomach
26	chr19:38399600-38403800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:38399600-38404800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:38399600-38405400	Weak transcription	Colonic Mucosa	Colon
29	chr19:38399600-38409600	Weak transcription	NHLF	lung
30	chr19:38399600-38411400	Weak transcription	Esophagus	oesophagus
31	chr19:38399600-38422000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:38399600-38424000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:38399600-38424200	Weak transcription	Right Atrium	heart
34	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:38399800-38404800	Weak transcription	Small Intestine	intestine
36	chr19:38399800-38405200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr19:38399800-38405400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:38399800-38405400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:38399800-38405600	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:38399800-38405600	Weak transcription	Spleen	Spleen
41	chr19:38399800-38409600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:38399800-38409600	Weak transcription	Brain Anterior Caudate	brain
43	chr19:38399800-38410800	Weak transcription	Brain Angular Gyrus	brain
44	chr19:38399800-38411000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:38399800-38411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:38399800-38411600	Weak transcription	Lung	lung
47	chr19:38399800-38413800	Weak transcription	Liver	Liver
48	chr19:38399800-38417200	Weak transcription	Ovary	ovary
49	chr19:38399800-38421200	Weak transcription	Gastric	stomach
50	chr19:38399800-38421800	Weak transcription	Left Ventricle	heart

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