Variant report

Variant	rs36063822
Chromosome Location	chr16:30571910-30571911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30455450..30458862-chr16:30569304..30572069,4	K562	blood:
2	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
3	chr16:30555395..30557197-chr16:30569839..30572289,2	K562	blood:
4	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
5	chr16:30567962..30575227-chr16:30576961..30586002,21	MCF-7	breast:
6	chr16:30568530..30574160-chr16:30594464..30599047,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169955	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000239791	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12918327	0.82[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.85[YRI][hapmap]
rs7186852	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7187071	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7188789	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7194347	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7197475	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs8050463	0.93[GIH][hapmap]
rs9925025	0.82[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs36063822	SRCAP	cis	lymphoblastoid	GTEx
rs36063822	MYST1	cis	parietal	SCAN
rs36063822	PPP4C	cis	cerebellum	SCAN
rs36063822	ITGAX	cis	parietal	SCAN
rs36063822	PHKG2	cis	parietal	SCAN
rs36063822	RNF40	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30569600-30572600	Weak transcription	Aorta	Aorta
2	chr16:30569800-30572400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr16:30569800-30572400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:30569800-30572400	Weak transcription	Spleen	Spleen
5	chr16:30569800-30572600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:30569800-30572600	Weak transcription	Lung	lung
7	chr16:30569800-30572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:30570200-30572200	Weak transcription	Primary B cells from cord blood	blood
9	chr16:30570200-30572400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:30570200-30572400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:30570200-30572400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:30570200-30572400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr16:30570200-30572400	Weak transcription	Primary T cells from cord blood	blood
14	chr16:30570200-30572400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:30570200-30572400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:30570200-30572400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:30570200-30572400	Weak transcription	Fetal Kidney	kidney
18	chr16:30570200-30572400	Weak transcription	Ovary	ovary
19	chr16:30570200-30572400	Weak transcription	Psoas Muscle	Psoas
20	chr16:30570200-30572400	Weak transcription	HUVEC	blood vessel
21	chr16:30570200-30572400	Weak transcription	NHLF	lung
22	chr16:30570200-30572600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:30570200-30572600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:30570200-30572600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr16:30570200-30572600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr16:30570200-30572600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:30570200-30572600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:30570200-30572600	Weak transcription	Esophagus	oesophagus
29	chr16:30570200-30572600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr16:30570200-30572600	Weak transcription	Gastric	stomach
31	chr16:30570200-30572600	Weak transcription	HMEC	breast
32	chr16:30570200-30572600	Weak transcription	NH-A	brain
33	chr16:30570200-30572600	Weak transcription	NHDF-Ad	bronchial
34	chr16:30570200-30580800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr16:30570200-30581200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:30570400-30572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:30570400-30572200	Weak transcription	Brain Substantia Nigra	brain
38	chr16:30570400-30572200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:30570400-30572200	Weak transcription	GM12878-XiMat	blood
40	chr16:30570400-30572400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:30570400-30572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr16:30570400-30572400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:30570400-30572400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:30570400-30572400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr16:30570400-30572400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:30570400-30572400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr16:30570400-30572400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr16:30570400-30572400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr16:30570400-30572400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:30570400-30572400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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