Variant report

Variant	rs35864326
Chromosome Location	chr19:37999582-37999583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37957751..37961901-chr19:37996099..37999727,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171827	Chromatin interaction
ENSG00000196437	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10421436	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10422527	0.80[ASN][1000 genomes]
rs10425719	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12981359	0.80[EUR][1000 genomes]
rs34410821	0.84[EUR][1000 genomes]
rs4344867	0.81[EUR][1000 genomes]
rs6508725	0.80[EUR][1000 genomes]
rs7247090	0.82[EUR][1000 genomes]
rs8109103	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking 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	15 gene(s)	inside rSNPs	diseases
5	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs35864326	AC012309.5	cis	Heart Left Ventricle	GTEx
rs35864326	ZNF781	cis	Thyroid	GTEx
rs35864326	AC012309.5	cis	Esophagus Muscularis	GTEx
rs35864326	AC012309.5	cis	Artery Tibial	GTEx
rs35864326	AC012309.5	cis	Thyroid	GTEx
rs35864326	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37998000-37999600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:37998400-38004800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:37998600-37999800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:37998600-38000400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr19:37998600-38000400	Weak transcription	Left Ventricle	heart
6	chr19:37998600-38001400	Weak transcription	Colonic Mucosa	Colon
7	chr19:37998600-38002400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:37998600-38002600	Weak transcription	Spleen	Spleen
9	chr19:37998600-38003200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:37998600-38003800	Weak transcription	Placenta	Placenta
11	chr19:37998600-38004200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:37998600-38004800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:37998600-38005200	Weak transcription	Psoas Muscle	Psoas
14	chr19:37998600-38008400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:37998800-37999600	Enhancers	Fetal Brain Male	brain
16	chr19:37998800-37999800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr19:37998800-37999800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr19:37998800-38000000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:37998800-38000000	Weak transcription	Ovary	ovary
20	chr19:37998800-38000400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr19:37998800-38000600	Weak transcription	Fetal Stomach	stomach
22	chr19:37998800-38000800	Weak transcription	Fetal Intestine Large	intestine
23	chr19:37998800-38001200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr19:37998800-38002000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr19:37998800-38002000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:37998800-38002200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr19:37998800-38002200	Weak transcription	Aorta	Aorta
28	chr19:37998800-38002200	Weak transcription	Pancreas	Pancrea
29	chr19:37998800-38002400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr19:37998800-38002600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:37998800-38003800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr19:37998800-38006200	Weak transcription	Esophagus	oesophagus
33	chr19:37998800-38010800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:37998800-38014000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr19:37998800-38021000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:37998800-38022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:37999000-37999800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:37999000-38000000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:37999000-38000200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:37999000-38000600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:37999000-38000600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:37999000-38001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr19:37999000-38001800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:37999000-38001800	Weak transcription	Fetal Muscle Leg	muscle
45	chr19:37999000-38002000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:37999000-38002000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:37999000-38002000	Weak transcription	Colon Smooth Muscle	Colon
48	chr19:37999000-38002000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:37999000-38002000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr19:37999000-38002200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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