Variant report

Variant	rs12981701
Chromosome Location	chr19:44036417-44036418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr19:44036397-44037693	MCF-7	breast:	n/a	chr19:44037089-44037099

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44036203..44038928-chr19:44171420..44174647,3	K562	blood:
2	chr19:44007568..44009583-chr19:44036201..44039639,3	MCF-7	breast:
3	chr19:44035923..44038107-chr19:44078243..44080720,2	MCF-7	breast:
4	chr19:44036185..44038265-chr19:44078295..44081409,3	K562	blood:
5	chr19:44034271..44036948-chr19:44127770..44129771,2	K562	blood:
6	chr19:44029247..44034379-chr19:44035166..44038879,9	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF575	TF binding region
ENSG00000234465	Chromatin interaction
ENSG00000105755	Chromatin interaction
ENSG00000176472	Chromatin interaction
ENSG00000269583	Chromatin interaction
ENSG00000176531	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000073050	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12983281	0.96[ASN][1000 genomes]
rs1475933	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs184239	0.80[ASN][1000 genomes]
rs1978008	0.81[ASN][1000 genomes]
rs2022062	0.88[EUR][1000 genomes]
rs2030404	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2139720	0.95[ASN][1000 genomes]
rs25479	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs25485	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2599461	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2599462	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2682561	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2682563	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682585	0.80[ASN][1000 genomes]
rs2854500	0.91[ASN][1000 genomes]
rs2854501	0.91[ASN][1000 genomes]
rs2854506	0.81[ASN][1000 genomes]
rs2854507	0.81[ASN][1000 genomes]
rs2854508	0.81[ASN][1000 genomes]
rs2854509	0.81[ASN][1000 genomes]
rs304731	0.80[ASN][1000 genomes]
rs3213276	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3213329	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3213333	0.91[ASN][1000 genomes]
rs3213334	0.91[ASN][1000 genomes]
rs3213356	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3213387	0.96[ASN][1000 genomes]
rs3547	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56012842	0.95[ASN][1000 genomes]
rs73043690	0.96[ASN][1000 genomes]
rs762506	0.83[ASN][1000 genomes]
rs762507	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs915927	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
12	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv912107	chr19:44030998-44055726	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12981701	ZNF575	cis	lung	GTEx
rs12981701	ZNF575	cis	Nerve Tibial	GTEx
rs12981701	ZNF575	cis	Adipose Subcutaneous	GTEx
rs12981701	ZNF575	cis	Artery Tibial	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44031600-44036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:44031600-44036600	Weak transcription	Lung	lung
3	chr19:44031600-44036600	Weak transcription	Small Intestine	intestine
4	chr19:44031600-44036800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:44031600-44036800	Weak transcription	Spleen	Spleen
6	chr19:44031800-44036600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:44031800-44036600	Weak transcription	Fetal Heart	heart
8	chr19:44031800-44036600	Weak transcription	HUVEC	blood vessel
9	chr19:44032200-44036600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:44032200-44036600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:44032200-44036600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:44032200-44036600	Weak transcription	Adipose Nuclei	Adipose
13	chr19:44032200-44036600	Weak transcription	Aorta	Aorta
14	chr19:44032200-44036600	Weak transcription	Brain Germinal Matrix	brain
15	chr19:44032200-44036600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:44032200-44036600	Weak transcription	Esophagus	oesophagus
17	chr19:44032200-44036600	Weak transcription	Fetal Brain Male	brain
18	chr19:44032200-44036600	Weak transcription	Fetal Brain Female	brain
19	chr19:44032200-44036600	Weak transcription	Left Ventricle	heart
20	chr19:44032200-44036600	Weak transcription	Right Atrium	heart
21	chr19:44032200-44036600	Weak transcription	Right Ventricle	heart
22	chr19:44032200-44036600	Weak transcription	GM12878-XiMat	blood
23	chr19:44032200-44036800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:44032200-44036800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:44032200-44036800	Weak transcription	HSMM	muscle
26	chr19:44032400-44036600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:44032400-44036600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:44032400-44036600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:44032400-44036600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:44032400-44036600	Weak transcription	Fetal Kidney	kidney
31	chr19:44032400-44036600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:44032600-44036600	Weak transcription	Primary T cells from cord blood	blood
33	chr19:44032600-44036600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:44032600-44036600	Weak transcription	Fetal Lung	lung
35	chr19:44032600-44036600	Weak transcription	K562	blood
36	chr19:44032600-44036800	Weak transcription	Dnd41	blood
37	chr19:44032800-44036600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:44032800-44036600	Weak transcription	Fetal Intestine Large	intestine
39	chr19:44032800-44036600	Weak transcription	Thymus	Thymus
40	chr19:44034200-44036600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:44034400-44036600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr19:44034400-44036600	Weak transcription	Placenta	Placenta
43	chr19:44034400-44036600	Weak transcription	HMEC	breast
44	chr19:44034400-44036600	Weak transcription	NH-A	brain
45	chr19:44036000-44036600	Enhancers	Primary hematopoietic stem cells	blood
46	chr19:44036000-44036600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:44036200-44036600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr19:44036200-44036600	Enhancers	Primary B cells from cord blood	blood
49	chr19:44036200-44036600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr19:44036200-44036600	Enhancers	Primary T helper cells fromperipheralblood	blood

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