Variant report

Variant	rs12984982
Chromosome Location	chr19:36624359-36624360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36615077..36620423-chr19:36622100..36624907,6	K562	blood:
2	chr19:36617250..36625256-chr19:36625801..36633837,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126247	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10410162	0.83[CEU][hapmap]
rs17639286	1.00[ASW][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];1.00[MKK][hapmap]

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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases
6	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12984982	GRIK5	cis	cerebellum	SCAN
rs12984982	ATXN7L1	trans	parietal	SCAN
rs12984982	CYP2F1	cis	cerebellum	SCAN
rs12984982	CCDC97	cis	parietal	SCAN
rs12984982	ZNF229	cis	parietal	SCAN
rs12984982	LTBP4	cis	parietal	SCAN
rs12984982	ZNF570	cis	parietal	SCAN
rs12984982	CYP2B7P1	cis	parietal	SCAN
rs12984982	MEGF8	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36619600-36627600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:36619600-36630200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:36619800-36624400	Enhancers	Placenta	Placenta
4	chr19:36619800-36624600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:36619800-36627200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr19:36619800-36627200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:36619800-36627600	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:36619800-36627600	Weak transcription	Right Atrium	heart
9	chr19:36619800-36627600	Weak transcription	Osteobl	bone
10	chr19:36619800-36627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:36619800-36627800	Weak transcription	Fetal Muscle Leg	muscle
12	chr19:36619800-36630000	Weak transcription	Fetal Thymus	thymus
13	chr19:36619800-36630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:36620000-36627200	Enhancers	Hela-S3	cervix
15	chr19:36621200-36624600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:36621800-36624600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr19:36622000-36624600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:36622200-36624800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr19:36622400-36627000	Weak transcription	HepG2	liver
20	chr19:36622400-36627600	Weak transcription	Adipose Nuclei	Adipose
21	chr19:36622600-36624600	Enhancers	NHEK	skin
22	chr19:36622600-36629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:36622800-36624600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr19:36623000-36627200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:36623000-36627600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:36623400-36624600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:36623400-36626800	Weak transcription	HMEC	breast
28	chr19:36623600-36624400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:36623600-36625600	Weak transcription	Esophagus	oesophagus
30	chr19:36623600-36630200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr19:36623600-36630200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:36623800-36624800	Enhancers	A549	lung
33	chr19:36623800-36625600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:36623800-36626400	Weak transcription	Gastric	stomach
35	chr19:36623800-36627000	Weak transcription	Stomach Mucosa	stomach
36	chr19:36623800-36627200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:36623800-36627200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr19:36623800-36627200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr19:36623800-36627600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:36623800-36627600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:36623800-36627600	Weak transcription	GM12878-XiMat	blood
42	chr19:36623800-36627600	Weak transcription	NH-A	brain
43	chr19:36623800-36629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:36623800-36630400	Weak transcription	Lung	lung
45	chr19:36624000-36624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:36624000-36624400	Weak transcription	Spleen	Spleen
47	chr19:36624000-36625600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:36624000-36626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:36624000-36626200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:36624000-36626800	Weak transcription	Muscle Satellite Cultured Cells	--

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