Variant report

Variant	rs531870
Chromosome Location	chr19:37344502-37344503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37338913..37342435-chr19:37343992..37346462,3	K562	blood:
2	chr19:37340586..37343118-chr19:37344104..37346997,2	MCF-7	breast:
3	chr19:37341751..37345172-chr19:37348520..37351258,3	K562	blood:

Variant related genes	Relation type
ENSG00000206669	Chromatin interaction
ENSG00000251247	Chromatin interaction
ENSG00000197863	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1148401	0.82[EUR][1000 genomes]
rs1227560	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1227824	0.82[EUR][1000 genomes]
rs12982205	0.81[EUR][1000 genomes]
rs1302670	0.82[EUR][1000 genomes]
rs1726717	0.82[AFR][1000 genomes]
rs34201634	0.81[AFR][1000 genomes]
rs35967992	0.80[EUR][1000 genomes]
rs477942	0.93[AFR][1000 genomes]
rs4806365	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs491898	0.85[AFR][1000 genomes]
rs493482	0.84[AFR][1000 genomes]
rs503956	0.86[AFR][1000 genomes]
rs503959	0.85[AFR][1000 genomes]
rs506463	0.86[AFR][1000 genomes]
rs542847	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs559008	0.86[AFR][1000 genomes]
rs566432	0.88[AFR][1000 genomes]
rs577093	0.87[AFR][1000 genomes]
rs578699	0.88[AFR][1000 genomes]
rs579445	0.86[AFR][1000 genomes]
rs826264	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs826622	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs531870	AC012309.5	cis	Thyroid	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37342600-37345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:37342800-37344600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr19:37342800-37344600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:37342800-37344600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:37342800-37344600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr19:37342800-37344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:37342800-37344600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:37342800-37344600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:37342800-37344600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:37342800-37344600	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:37342800-37344600	Weak transcription	Ovary	ovary
12	chr19:37342800-37344600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:37342800-37344600	Weak transcription	HSMM	muscle
14	chr19:37342800-37344600	Weak transcription	NHDF-Ad	bronchial
15	chr19:37342800-37344800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:37342800-37344800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:37342800-37344800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:37342800-37344800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:37342800-37344800	Weak transcription	Left Ventricle	heart
20	chr19:37342800-37344800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:37342800-37345000	Weak transcription	Colonic Mucosa	Colon
22	chr19:37342800-37345200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:37342800-37345400	Weak transcription	Aorta	Aorta
24	chr19:37342800-37345800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:37342800-37345800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:37342800-37346200	Weak transcription	Fetal Thymus	thymus
27	chr19:37342800-37346200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:37342800-37346400	Weak transcription	Gastric	stomach
29	chr19:37342800-37346600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:37342800-37346600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:37342800-37346800	Weak transcription	Brain Anterior Caudate	brain
32	chr19:37342800-37346800	Weak transcription	Brain Substantia Nigra	brain
33	chr19:37342800-37346800	Weak transcription	Placenta	Placenta
34	chr19:37342800-37347400	Weak transcription	Psoas Muscle	Psoas
35	chr19:37342800-37348400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:37342800-37348600	Weak transcription	Esophagus	oesophagus
37	chr19:37342800-37348800	Weak transcription	Brain Angular Gyrus	brain
38	chr19:37342800-37353800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:37342800-37353800	Weak transcription	HUVEC	blood vessel
40	chr19:37342800-37355000	Weak transcription	Osteobl	bone
41	chr19:37342800-37356800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:37343000-37344600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:37343000-37344600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:37343000-37344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:37343000-37344600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:37343000-37344600	Weak transcription	Primary B cells from cord blood	blood
47	chr19:37343000-37344600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:37343000-37344600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:37343000-37344600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:37343000-37344600	Weak transcription	Adipose Nuclei	Adipose

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