Variant report

Variant	rs577844
Chromosome Location	chr19:37400126-37400127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1069756	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1069757	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1148397	0.84[AFR][1000 genomes]
rs1644644	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644646	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644655	0.88[AFR][1000 genomes]
rs1644680	0.88[AFR][1000 genomes]
rs1644694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644703	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667332	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667334	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254217	1.00[AMR][1000 genomes]
rs2435066	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562584	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562586	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562588	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562590	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35624635	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477893	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485980	0.97[AFR][1000 genomes]
rs486891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555433	0.84[AFR][1000 genomes]
rs565030	0.84[AFR][1000 genomes]
rs569068	0.94[AFR][1000 genomes]
rs573596	1.00[AFR][1000 genomes]
rs703528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703529	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703532	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703533	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703534	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703536	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255103	1.00[AMR][1000 genomes]
rs7255728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7257279	1.00[AMR][1000 genomes]
rs7259422	1.00[AMR][1000 genomes]
rs7259881	1.00[AMR][1000 genomes]
rs8102364	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs862248	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	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
19	nsv524754	chr19:37383894-37403224	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
2	chr19:37346400-37404600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37353400-37405000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37373800-37403400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37374000-37400400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:37374000-37405400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37374200-37404200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr19:37374400-37400400	ZNF genes & repeats	Fetal Brain Female	brain
9	chr19:37374400-37406400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:37374600-37400400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:37379400-37400400	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr19:37380400-37405000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:37391600-37400400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr19:37391600-37400400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:37391600-37403200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:37391800-37400200	Strong transcription	Osteobl	bone
17	chr19:37392600-37400200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:37393000-37400200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:37393000-37406200	Weak transcription	HUVEC	blood vessel
20	chr19:37393400-37406000	Weak transcription	NHLF	lung
21	chr19:37394200-37400200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr19:37394200-37402400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:37394400-37404200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr19:37395000-37400400	ZNF genes & repeats	Fetal Lung	lung
25	chr19:37395200-37400200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr19:37395200-37403000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:37395200-37406800	Weak transcription	Stomach Mucosa	stomach
28	chr19:37395400-37406000	Weak transcription	NHEK	skin
29	chr19:37396600-37400400	Strong transcription	Fetal Muscle Leg	muscle
30	chr19:37396800-37400400	Strong transcription	Brain Anterior Caudate	brain
31	chr19:37396800-37400600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
32	chr19:37397000-37400600	ZNF genes & repeats	Brain Hippocampus Middle	brain
33	chr19:37397200-37400400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:37397200-37404600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:37397600-37406000	Weak transcription	Fetal Heart	heart
36	chr19:37398000-37400200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr19:37398200-37400200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:37398200-37400400	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr19:37398200-37400400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
40	chr19:37398200-37400400	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr19:37398200-37405000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr19:37398600-37400400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
43	chr19:37398800-37400400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:37399000-37400200	Strong transcription	Dnd41	blood
45	chr19:37399000-37400400	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr19:37399000-37400400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr19:37399200-37400200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:37399200-37400400	Strong transcription	Fetal Kidney	kidney
49	chr19:37399200-37401000	Weak transcription	Fetal Intestine Small	intestine
50	chr19:37399200-37406000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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