Variant report

Variant	rs7508605
Chromosome Location	chr19:44332161-44332162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:44330804-44332486	IMR90	lung:	n/a	n/a
2	MXI1	chr19:44330924-44332286	SK-N-SH	brain:	n/a	n/a
3	MAX	chr19:44330749-44332187	A549	lung:	n/a	chr19:44331687-44331697
4	JUN	chr19:44331174-44332267	K562	blood:	n/a	chr19:44331370-44331384
5	HCFC1	chr19:44330971-44332174	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44331547..44333384-chr19:45002930..45004694,2	MCF-7	breast:
2	chr19:44330249..44332710-chr19:44437495..44440338,2	MCF-7	breast:
3	chr19:44330466..44332260-chr19:44438054..44440025,2	K562	blood:
4	chr19:44323198..44325701-chr19:44330167..44332994,2	K562	blood:

Variant related genes	Relation type
ZNF283	TF binding region
LYPD5	TF binding region
ENSG00000159871	Chromatin interaction
ENSG00000124459	Chromatin interaction
ENSG00000167384	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1061768	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16976804	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16976835	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2116939	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803661	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55727855	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55945626	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56098413	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56280239	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6509119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7248524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73050555	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73052643	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73052655	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73052663	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8103162	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7508605	ZNF615	cis	parietal	SCAN
rs7508605	PRKD2	cis	parietal	SCAN
rs7508605	SIGLEC16	cis	parietal	SCAN
rs7508605	SCAF1	cis	cerebellum	SCAN
rs7508605	CCDC8	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44330600-44332200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr19:44330800-44332200	Flanking Active TSS	Thymus	Thymus
3	chr19:44331000-44332200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:44331000-44332200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr19:44331000-44332200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr19:44331000-44332200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr19:44331000-44332200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:44331000-44332200	Active TSS	Colonic Mucosa	Colon
9	chr19:44331000-44332200	Active TSS	HSMMtube	muscle
10	chr19:44331000-44332400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:44331000-44332400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:44331000-44332400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:44331000-44332400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:44331000-44332400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr19:44331000-44332400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr19:44331000-44332400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:44331000-44332400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:44331000-44332400	Flanking Active TSS	Dnd41	blood
19	chr19:44331000-44332400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr19:44331000-44332600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:44331200-44332200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr19:44331200-44332200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr19:44331200-44332200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:44331200-44332200	Active TSS	Fetal Heart	heart
25	chr19:44331200-44332200	Active TSS	Fetal Intestine Small	intestine
26	chr19:44331200-44332200	Active TSS	Gastric	stomach
27	chr19:44331200-44332200	Active TSS	Left Ventricle	heart
28	chr19:44331200-44332200	Active TSS	GM12878-XiMat	blood
29	chr19:44331200-44332400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:44331200-44332400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:44331200-44332400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:44331200-44332400	Active TSS	HepG2	liver
33	chr19:44331200-44332600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr19:44331200-44332600	Active TSS	HMEC	breast
35	chr19:44331200-44332800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:44331400-44332200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:44331400-44332200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:44331400-44332200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr19:44331400-44332200	Active TSS	Fetal Intestine Large	intestine
40	chr19:44331400-44332200	Active TSS	HSMM	muscle
41	chr19:44331400-44332200	Active TSS	K562	blood
42	chr19:44331400-44332200	Active TSS	NHEK	skin
43	chr19:44331400-44332400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:44331400-44332400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:44331400-44332400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:44331400-44332400	Active TSS	Fetal Muscle Trunk	muscle
47	chr19:44331400-44332400	Active TSS	Rectal Smooth Muscle	rectum
48	chr19:44331400-44332400	Active TSS	NHLF	lung
49	chr19:44331800-44332200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:44331800-44332200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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