Variant report

Variant	rs2927744
Chromosome Location	chr19:38129535-38129536
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	chr19:38127485..38130734-chr19:38145645..38147979,3	K562	blood:
2	chr19:38127960..38129547-chr19:38130452..38132977,2	K562	blood:

Variant related genes	Relation type
ENSG00000120784	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10153500	1.00[YRI][hapmap]
rs1038084	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1038085	0.85[CEU][hapmap]
rs10407657	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10424612	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10425671	0.84[CEU][hapmap]
rs11083424	0.84[YRI][hapmap]
rs1116234	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11668434	0.89[CEU][hapmap]
rs11668558	0.89[CEU][hapmap]
rs11672077	0.89[CEU][hapmap]
rs11880056	0.95[YRI][hapmap]
rs11883255	0.95[YRI][hapmap]
rs11883392	0.85[CEU][hapmap]
rs12981750	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17306508	0.89[CEU][hapmap]
rs1871197	0.84[CEU][hapmap]
rs2045909	0.89[CEU][hapmap]
rs2061778	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2126978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2160640	0.89[CEU][hapmap]
rs2199644	0.89[CEU][hapmap]
rs241948	0.89[CEU][hapmap]
rs2891683	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2927743	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs2972456	0.85[CEU][hapmap]
rs2972459	0.85[CEU][hapmap]
rs3752365	0.85[CEU][hapmap]
rs4482404	0.89[CEU][hapmap]
rs4802069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803216	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4803228	0.89[CEU][hapmap]
rs56281742	0.81[AFR][1000 genomes]
rs62108289	0.80[AFR][1000 genomes]
rs62108297	0.81[AFR][1000 genomes]
rs62108344	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6508738	0.84[CEU][hapmap]
rs7245981	1.00[YRI][hapmap]
rs7254170	0.84[CEU][hapmap]
rs7254828	0.89[CEU][hapmap]
rs7255283	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7256747	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7259566	0.97[EUR][1000 genomes]
rs73932929	0.80[AFR][1000 genomes]
rs8101991	0.88[YRI][hapmap]
rs8102189	0.81[AFR][1000 genomes]
rs8102916	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8108261	0.81[AFR][1000 genomes]
rs8113076	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs856302	0.89[CEU][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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

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	chr19:38123600-38130400	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr19:38123600-38133600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr19:38123600-38140000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:38123600-38140800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:38123600-38141400	ZNF genes & repeats	Liver	Liver
9	chr19:38123800-38130600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:38124000-38131200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:38124000-38133000	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:38124000-38134200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
13	chr19:38124400-38135000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr19:38124600-38131200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:38124600-38140800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:38124600-38142000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:38124800-38129600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr19:38124800-38130600	ZNF genes & repeats	HSMMtube	muscle
19	chr19:38124800-38131000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:38124800-38134600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:38124800-38134800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:38124800-38136400	ZNF genes & repeats	Fetal Lung	lung
23	chr19:38124800-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:38124800-38144400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:38125000-38130600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:38125000-38131000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
27	chr19:38125000-38133000	ZNF genes & repeats	Dnd41	blood
28	chr19:38125000-38135600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
29	chr19:38125000-38136800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr19:38125600-38131000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
31	chr19:38125600-38131200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr19:38125600-38132200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr19:38125600-38133000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr19:38125600-38143200	ZNF genes & repeats	A549	lung
35	chr19:38125800-38130600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr19:38125800-38131000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:38125800-38131200	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr19:38125800-38133000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:38125800-38133000	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr19:38125800-38133000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
41	chr19:38125800-38133600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr19:38125800-38135000	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr19:38125800-38139600	ZNF genes & repeats	Colon Smooth Muscle	Colon
44	chr19:38125800-38140800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr19:38126000-38131200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:38126000-38131200	ZNF genes & repeats	Ovary	ovary
47	chr19:38126000-38132200	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr19:38126000-38133000	ZNF genes & repeats	Colonic Mucosa	Colon
49	chr19:38126000-38135200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr19:38126000-38135800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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