Variant report

Variant	rs13075615
Chromosome Location	chr3:136505832-136505833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136505315..136507042-chr3:136508359..136510151,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1280623	1.00[ASN][1000 genomes]
rs13063893	1.00[AFR][1000 genomes]
rs13063987	1.00[ASN][1000 genomes]
rs13072691	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];1.00[AFR][1000 genomes]
rs13088001	1.00[ASN][1000 genomes]
rs1681816	1.00[ASN][1000 genomes]
rs1681818	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34169052	1.00[AFR][1000 genomes]
rs34281413	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34553037	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs34602896	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs34613715	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34738913	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159729	1.00[ASN][1000 genomes]
rs35849216	1.00[AFR][1000 genomes]
rs4678440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773440	1.00[ASW][hapmap];1.00[CHD][hapmap]
rs71336078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006737	chr3:136466188-136530743	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13075615	NCK1	cis	parietal	SCAN
rs13075615	TMEM22	cis	cerebellum	SCAN
rs13075615	MSL2	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136500200-136508000	Enhancers	Placenta	Placenta
2	chr3:136504000-136506600	Enhancers	Fetal Muscle Leg	muscle
3	chr3:136504800-136507200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:136505000-136506000	Flanking Active TSS	Hela-S3	cervix
5	chr3:136505000-136506200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:136505000-136506400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:136505000-136506600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:136505000-136506600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:136505000-136506600	Enhancers	Fetal Stomach	stomach
10	chr3:136505000-136506600	Enhancers	Fetal Thymus	thymus
11	chr3:136505000-136507400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:136505200-136506000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:136505200-136506000	Active TSS	Ovary	ovary
14	chr3:136505200-136506000	Flanking Active TSS	HUVEC	blood vessel
15	chr3:136505200-136506000	Flanking Active TSS	NHEK	skin
16	chr3:136505200-136506000	Active TSS	NHLF	lung
17	chr3:136505200-136506200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr3:136505200-136506200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr3:136505200-136506400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:136505200-136506400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:136505200-136506400	Active TSS	Aorta	Aorta
22	chr3:136505200-136506400	Flanking Active TSS	Osteobl	bone
23	chr3:136505200-136506600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:136505200-136506600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:136505200-136506600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:136505200-136506600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:136505200-136506600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:136505200-136506600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:136505200-136506600	Enhancers	Fetal Brain Male	brain
30	chr3:136505200-136506600	Enhancers	Thymus	Thymus
31	chr3:136505200-136506600	Enhancers	HepG2	liver
32	chr3:136505400-136506000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:136505400-136506000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr3:136505400-136506000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr3:136505400-136506000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:136505400-136506000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:136505400-136506000	Active TSS	Colonic Mucosa	Colon
38	chr3:136505400-136506000	Flanking Active TSS	Fetal Lung	lung
39	chr3:136505400-136506000	Flanking Active TSS	Dnd41	blood
40	chr3:136505400-136506000	Flanking Active TSS	GM12878-XiMat	blood
41	chr3:136505400-136506000	Enhancers	HMEC	breast
42	chr3:136505400-136506000	Flanking Active TSS	K562	blood
43	chr3:136505400-136506200	Enhancers	Fetal Kidney	kidney
44	chr3:136505400-136506200	Flanking Active TSS	A549	lung
45	chr3:136505400-136506600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr3:136505400-136506600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr3:136505400-136506600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:136505400-136506600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:136505400-136506600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:136505400-136506600	Enhancers	Duodenum Mucosa	Duodenum

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