Variant report

Variant	rs8103162
Chromosome Location	chr19:44333049-44333050
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	chr19:44331547..44333384-chr19:45002930..45004694,2	MCF-7	breast:

Variant related genes	Relation type
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	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976804	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16976835	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116939	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];1.00[ASN][1000 genomes]
rs4803661	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55727855	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55945626	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56098413	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56280239	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509119	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7248524	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73050555	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73052643	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052655	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052663	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7508605	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
rs8103162	SCAF1	cis	cerebellum	SCAN
rs8103162	PRKD2	cis	parietal	SCAN
rs8103162	SIGLEC16	cis	parietal	SCAN
rs8103162	C19orf63	cis	parietal	SCAN
rs8103162	ZNF615	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44332000-44334200	Weak transcription	Aorta	Aorta
2	chr19:44332000-44336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44332000-44339200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44332000-44344400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:44332200-44333600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:44332200-44333800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:44332200-44334000	Weak transcription	Gastric	stomach
8	chr19:44332200-44334000	Weak transcription	Spleen	Spleen
9	chr19:44332200-44334200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr19:44332200-44334200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:44332200-44334200	Weak transcription	Pancreas	Pancrea
12	chr19:44332200-44334200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:44332200-44334200	Weak transcription	Thymus	Thymus
14	chr19:44332200-44334400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:44332200-44335400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:44332200-44335400	Weak transcription	Left Ventricle	heart
17	chr19:44332200-44336600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:44332200-44336800	Weak transcription	Esophagus	oesophagus
19	chr19:44332200-44338400	ZNF genes & repeats	A549	lung
20	chr19:44332200-44340400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr19:44332200-44341000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:44332400-44333600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:44332400-44333600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:44332400-44333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:44332400-44333600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr19:44332400-44333600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr19:44332400-44333600	Weak transcription	NHDF-Ad	bronchial
28	chr19:44332400-44333600	Weak transcription	NHEK	skin
29	chr19:44332400-44333800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:44332400-44334000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr19:44332400-44334000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:44332400-44334000	Weak transcription	Small Intestine	intestine
33	chr19:44332400-44334200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:44332400-44334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:44332400-44334200	Weak transcription	Adipose Nuclei	Adipose
36	chr19:44332400-44334200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:44332400-44334200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:44332400-44334200	Weak transcription	Psoas Muscle	Psoas
39	chr19:44332400-44334200	Weak transcription	Dnd41	blood
40	chr19:44332400-44334400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:44332400-44334400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:44332400-44334400	Weak transcription	NH-A	brain
43	chr19:44332400-44334600	Weak transcription	Fetal Kidney	kidney
44	chr19:44332400-44335200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:44332400-44335400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:44332400-44335400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:44332400-44335400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:44332400-44335600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr19:44332400-44336000	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:44332400-44336200	Weak transcription	Colonic Mucosa	Colon

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