Variant report

Variant	rs2927743
Chromosome Location	chr19:38132334-38132335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38127960..38129547-chr19:38130452..38132977,2	K562	blood:
2	chr19:38130912..38133032-chr19:38155591..38157231,2	K562	blood:
3	chr19:38131156..38133498-chr19:38141254..38142957,2	MCF-7	breast:
4	chr19:38129742..38132534-chr19:38142978..38144992,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10153500	0.85[YRI][hapmap]
rs1038084	0.94[CHB][hapmap];0.96[CHD][hapmap];0.81[YRI][hapmap]
rs10407657	0.93[CHB][hapmap];0.80[YRI][hapmap]
rs10424612	0.94[CHB][hapmap];0.96[CHD][hapmap];0.81[YRI][hapmap]
rs11880056	0.81[YRI][hapmap]
rs11883255	0.81[YRI][hapmap]
rs17306795	0.84[CEU][hapmap]
rs2126978	1.00[CHB][hapmap]
rs2161520	0.80[CEU][hapmap]
rs241951	0.84[CEU][hapmap]
rs2927744	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs2972457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802069	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs4803216	0.94[CHB][hapmap];0.96[CHD][hapmap];0.81[YRI][hapmap]
rs7245981	0.85[YRI][hapmap]
rs7255283	0.94[CHB][hapmap];0.81[YRI][hapmap]
rs8113076	0.94[CHB][hapmap];0.81[YRI][hapmap]

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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2927743	ZNF284	cis	parietal	SCAN
rs2927743	ZFP30	cis	Liver	GTEx
rs2927743	CEACAM19	cis	cerebellum	SCAN
rs2927743	CEACAM3	cis	parietal	SCAN
rs2927743	DMPK	cis	parietal	SCAN
rs2927743	PHLDB3	cis	cerebellum	SCAN
rs2927743	IRGQ	cis	parietal	SCAN
rs2927743	PLEKHG2	cis	cerebellum	SCAN
rs2927743	MRPS12	cis	cerebellum	SCAN
rs2927743	AC012309.5	cis	Thyroid	GTEx
rs2927743	ZFP112	cis	parietal	SCAN
rs2927743	PAFAH1B3	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38121800-38139200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:38121800-38140600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:38123400-38138800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:38123600-38133600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr19:38123600-38140000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:38123600-38140800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:38123600-38141400	ZNF genes & repeats	Liver	Liver
8	chr19:38124000-38133000	ZNF genes & repeats	Fetal Brain Female	brain
9	chr19:38124000-38134200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
10	chr19:38124400-38135000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr19:38124600-38140800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:38124600-38142000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:38124800-38134600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr19:38124800-38134800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:38124800-38136400	ZNF genes & repeats	Fetal Lung	lung
16	chr19:38124800-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:38124800-38144400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:38125000-38133000	ZNF genes & repeats	Dnd41	blood
19	chr19:38125000-38135600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
20	chr19:38125000-38136800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr19:38125600-38133000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:38125600-38143200	ZNF genes & repeats	A549	lung
23	chr19:38125800-38133000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:38125800-38133000	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr19:38125800-38133000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
26	chr19:38125800-38133600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr19:38125800-38135000	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr19:38125800-38139600	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr19:38125800-38140800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr19:38126000-38133000	ZNF genes & repeats	Colonic Mucosa	Colon
31	chr19:38126000-38135200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr19:38126000-38135800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr19:38126000-38141400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr19:38126200-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:38126400-38139400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
36	chr19:38127200-38132400	Weak transcription	Fetal Heart	heart
37	chr19:38127200-38144600	Weak transcription	Hela-S3	cervix
38	chr19:38127600-38133600	Weak transcription	Right Ventricle	heart
39	chr19:38128200-38133200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr19:38128600-38132400	Weak transcription	Pancreas	Pancrea
41	chr19:38128600-38132400	Weak transcription	Thymus	Thymus
42	chr19:38129200-38132600	ZNF genes & repeats	HepG2	liver
43	chr19:38129200-38138400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:38129200-38139600	Strong transcription	HSMM	muscle
45	chr19:38129400-38132400	Weak transcription	Fetal Thymus	thymus
46	chr19:38129600-38132600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr19:38129600-38139000	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr19:38129800-38134000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:38130000-38133000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
50	chr19:38130000-38141600	Strong transcription	Osteobl	bone

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