Variant report

Variant	rs549031
Chromosome Location	chr19:37440739-37440740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1069756	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1069757	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1148397	1.00[YRI][hapmap]
rs1644644	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644653	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644655	0.94[AFR][1000 genomes]
rs1644680	0.94[AFR][1000 genomes]
rs1644694	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667334	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667361	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667362	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254217	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562584	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562586	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562588	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35624635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485980	0.91[AFR][1000 genomes]
rs486891	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525345	0.85[YRI][hapmap]
rs565030	1.00[YRI][hapmap]
rs569068	0.88[AFR][1000 genomes]
rs573596	0.94[AFR][1000 genomes]
rs577844	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703528	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703529	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703532	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703533	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703536	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7250855	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7251397	1.00[AMR][1000 genomes]
rs7251690	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7255103	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255177	1.00[AMR][1000 genomes]
rs7255728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7257279	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7258653	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7259422	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7259881	1.00[AMR][1000 genomes]
rs8102364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8112080	1.00[YRI][hapmap]
rs826286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826287	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs862248	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
17	nsv579463	chr19:37437106-37488055	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37409000-37444800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37409000-37447400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:37415800-37444600	ZNF genes & repeats	Liver	Liver
4	chr19:37419400-37447400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:37420600-37443000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37420600-37447400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:37420600-37447600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:37427200-37441600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr19:37430800-37443200	Weak transcription	Pancreas	Pancrea
10	chr19:37432600-37441400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
11	chr19:37433000-37442000	ZNF genes & repeats	Ovary	ovary
12	chr19:37435200-37442600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:37435400-37444400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:37436000-37441600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
15	chr19:37436000-37442000	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr19:37437400-37442600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:37437600-37441800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:37437800-37441800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr19:37437800-37441800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
20	chr19:37437800-37442000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:37437800-37442000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:37437800-37442400	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr19:37438000-37441600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:37438000-37442000	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr19:37438200-37441600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:37438200-37441600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:37438200-37441600	Strong transcription	Placenta	Placenta
28	chr19:37438200-37441800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr19:37438200-37441800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:37438200-37441800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
31	chr19:37438200-37442000	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr19:37438200-37442000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chr19:37438200-37442000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:37438200-37442000	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr19:37438200-37442000	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr19:37438200-37442000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
37	chr19:37438200-37442000	ZNF genes & repeats	Fetal Lung	lung
38	chr19:37438200-37442000	ZNF genes & repeats	HSMM	muscle
39	chr19:37438200-37442000	ZNF genes & repeats	NH-A	brain
40	chr19:37438200-37442000	ZNF genes & repeats	NHDF-Ad	bronchial
41	chr19:37438200-37442200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:37438200-37442200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr19:37438200-37442200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr19:37438200-37442200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr19:37438200-37442200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr19:37438200-37442200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:37438200-37442200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr19:37438200-37442400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:37438200-37442400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
50	chr19:37438200-37442400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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