Variant report

Variant	rs1726720
Chromosome Location	chr19:37327902-37327903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37327731..37330688-chr19:37341355..37343335,2	K562	blood:
2	chr19:37327831..37331190-chr19:37339964..37343241,7	MCF-7	breast:
3	chr19:37327752..37331008-chr19:37336124..37344037,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197863	Chromatin interaction
ENSG00000251247	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1148385	0.88[AFR][1000 genomes]
rs1148389	0.86[AFR][1000 genomes]
rs1148392	0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs1227565	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1227576	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1227795	0.84[YRI][hapmap];0.86[AFR][1000 genomes]
rs1227798	0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs1227813	0.81[YRI][hapmap]
rs1227868	0.83[AFR][1000 genomes]
rs1302669	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1623946	0.84[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1631197	0.88[AFR][1000 genomes]
rs1643423	0.84[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1673076	0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1726721	0.83[AMR][1000 genomes]
rs1726722	0.83[AMR][1000 genomes]
rs28418630	0.80[AFR][1000 genomes]
rs475196	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs508541	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs516635	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs562135	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs562429	0.83[AMR][1000 genomes]
rs569886	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	esv3354270	chr19:37309161-37364929	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	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
22	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37292000-37328400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
2	chr19:37298400-37328200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:37303200-37328000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr19:37311000-37328200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:37312600-37328000	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr19:37318200-37328200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:37322600-37328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:37323600-37328200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:37323600-37328200	Weak transcription	Gastric	stomach
10	chr19:37323600-37328200	Weak transcription	Right Ventricle	heart
11	chr19:37323600-37328200	Weak transcription	HUVEC	blood vessel
12	chr19:37323600-37328600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:37323800-37328000	Weak transcription	HSMMtube	muscle
14	chr19:37324800-37328400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:37325000-37328200	Weak transcription	Placenta	Placenta
16	chr19:37325200-37328200	Weak transcription	Left Ventricle	heart
17	chr19:37325600-37328000	Weak transcription	Osteobl	bone
18	chr19:37325600-37328200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:37325800-37328200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:37326400-37328000	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr19:37326400-37328600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr19:37326800-37328000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:37327000-37328000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:37327000-37328000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:37327000-37328000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:37327000-37328000	Weak transcription	Brain Germinal Matrix	brain
27	chr19:37327000-37328000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:37327000-37328200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr19:37327000-37328200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:37327000-37328200	Weak transcription	Colonic Mucosa	Colon
31	chr19:37327200-37328000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:37327200-37328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:37327200-37328000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr19:37327200-37328200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:37327200-37328200	Weak transcription	Brain Substantia Nigra	brain
36	chr19:37327200-37328200	Weak transcription	Fetal Brain Female	brain
37	chr19:37327200-37328200	Weak transcription	Psoas Muscle	Psoas
38	chr19:37327400-37328000	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:37327400-37328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:37327400-37328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:37327400-37328200	Weak transcription	NHEK	skin
42	chr19:37327600-37328000	Enhancers	Fetal Intestine Large	intestine
43	chr19:37327600-37328200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr19:37327600-37328200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:37327600-37328200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:37327600-37328200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:37327600-37328400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:37327600-37328400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:37327600-37328600	ZNF genes & repeats	GM12878-XiMat	blood
50	chr19:37327600-37328800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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