Variant report

Variant	rs4803714
Chromosome Location	chr19:44997872-44997873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44997533..44999316-chr19:45001592..45004032,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10412793	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11670601	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12462473	0.98[EUR][1000 genomes]
rs13343871	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13344684	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13344700	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13345771	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13345783	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17727392	0.80[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs1897820	0.86[YRI][hapmap]
rs1996823	0.89[LWK][hapmap];0.86[YRI][hapmap]
rs2204120	0.83[EUR][1000 genomes]
rs2222406	0.83[EUR][1000 genomes]
rs2253210	0.89[LWK][hapmap];0.86[YRI][hapmap]
rs2253563	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2571042	0.83[ASW][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2571043	0.83[ASW][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2571045	0.85[AFR][1000 genomes]
rs2571046	0.82[YRI][hapmap]
rs2571047	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs2571048	0.87[LWK][hapmap];0.86[YRI][hapmap]
rs2571051	0.89[LWK][hapmap];0.83[YRI][hapmap]
rs2686760	0.81[AFR][1000 genomes]
rs2686763	0.81[AFR][1000 genomes]
rs2686764	0.83[AFR][1000 genomes]
rs2686765	0.85[AFR][1000 genomes]
rs28615408	0.83[EUR][1000 genomes]
rs34400340	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3786501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4802227	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803713	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803716	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803717	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803718	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803719	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803720	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803721	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58630472	0.83[EUR][1000 genomes]
rs59202354	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59807984	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6509162	0.82[AFR][1000 genomes]
rs926020	0.87[LWK][hapmap];0.86[YRI][hapmap]

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	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4803714	SULT2A1	cis	parietal	SCAN
rs4803714	ZNF701	cis	parietal	SCAN
rs4803714	SNRPD2	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44978800-45003400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr19:44993600-45002000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:44993600-45002000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:44993600-45003600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:44993600-45003600	ZNF genes & repeats	Primary B cells from cord blood	blood
6	chr19:44993600-45003600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:44993600-45003600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:44994000-44998200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:44994000-45000000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:44994000-45000000	ZNF genes & repeats	Fetal Kidney	kidney
11	chr19:44994000-45001800	ZNF genes & repeats	Dnd41	blood
12	chr19:44994000-45002200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
13	chr19:44994000-45002200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
14	chr19:44994000-45002600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:44994000-45002600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr19:44994000-45002800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr19:44994000-45002800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr19:44994000-45002800	ZNF genes & repeats	Brain Anterior Caudate	brain
19	chr19:44994000-45002800	ZNF genes & repeats	HepG2	liver
20	chr19:44994000-45003000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr19:44994000-45003000	ZNF genes & repeats	Fetal Brain Female	brain
22	chr19:44994000-45003000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr19:44994000-45003200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr19:44994000-45003200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
25	chr19:44994000-45003200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:44994000-45003200	ZNF genes & repeats	Liver	Liver
27	chr19:44994000-45003400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:44994000-45003400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:44994000-45003400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
30	chr19:44994000-45003600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr19:44994000-45003600	ZNF genes & repeats	GM12878-XiMat	blood
32	chr19:44994000-45003800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:44994000-45003800	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr19:44994200-45000200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
35	chr19:44994200-45000200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
36	chr19:44994200-45000400	ZNF genes & repeats	Left Ventricle	heart
37	chr19:44994200-45000800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:44994200-45001200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr19:44994200-45001200	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr19:44994200-45002000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:44994200-45002200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:44994200-45002600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr19:44994200-45002600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
44	chr19:44994200-45002800	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr19:44994200-45002800	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr19:44994200-45003000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:44994200-45003000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
48	chr19:44994200-45003000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr19:44994200-45003000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:44994200-45003000	ZNF genes & repeats	Brain Hippocampus Middle	brain

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