Variant report

Variant	rs9995704
Chromosome Location	chr4:152619069-152619070
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152618119..152619775-chr4:152630360..152632137,2	MCF-7	breast:
2	chr4:152618513..152621111-chr4:152621997..152624940,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000059691	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10007015	0.86[EUR][1000 genomes]
rs10007167	0.86[EUR][1000 genomes]
rs10019048	0.86[EUR][1000 genomes]
rs10023298	0.83[EUR][1000 genomes]
rs10028410	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10028961	0.83[EUR][1000 genomes]
rs10049728	0.83[EUR][1000 genomes]
rs10049991	0.83[EUR][1000 genomes]
rs10776524	0.86[EUR][1000 genomes]
rs1105534	0.86[EUR][1000 genomes]
rs1105535	0.86[EUR][1000 genomes]
rs1105536	0.86[EUR][1000 genomes]
rs12331037	0.82[EUR][1000 genomes]
rs12502055	0.86[EUR][1000 genomes]
rs1355413	0.87[EUR][1000 genomes]
rs1366909	0.86[EUR][1000 genomes]
rs1511170	0.81[EUR][1000 genomes]
rs17027798	0.85[EUR][1000 genomes]
rs17360475	0.83[EUR][1000 genomes]
rs1864300	0.82[EUR][1000 genomes]
rs1877187	0.86[EUR][1000 genomes]
rs1896883	0.85[EUR][1000 genomes]
rs2007218	0.85[EUR][1000 genomes]
rs2007445	0.86[EUR][1000 genomes]
rs2303866	0.87[EUR][1000 genomes]
rs2840130	0.86[EUR][1000 genomes]
rs28637056	0.84[EUR][1000 genomes]
rs28710456	0.83[EUR][1000 genomes]
rs3749561	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3749563	0.85[EUR][1000 genomes]
rs3792691	0.88[EUR][1000 genomes]
rs4383600	0.81[EUR][1000 genomes]
rs4571	0.85[EUR][1000 genomes]
rs4696104	0.86[EUR][1000 genomes]
rs4696109	0.83[EUR][1000 genomes]
rs4696111	0.83[EUR][1000 genomes]
rs4696277	0.81[EUR][1000 genomes]
rs4696283	0.84[EUR][1000 genomes]
rs4696284	0.86[EUR][1000 genomes]
rs4696285	0.86[EUR][1000 genomes]
rs4696291	0.87[EUR][1000 genomes]
rs6535809	0.86[EUR][1000 genomes]
rs6535811	0.86[EUR][1000 genomes]
rs6535812	0.86[EUR][1000 genomes]
rs6535813	0.85[EUR][1000 genomes]
rs6535814	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6535815	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6535817	0.87[EUR][1000 genomes]
rs6535818	0.82[EUR][1000 genomes]
rs6535819	0.85[EUR][1000 genomes]
rs6810860	0.86[EUR][1000 genomes]
rs6817058	0.86[EUR][1000 genomes]
rs6817586	0.86[EUR][1000 genomes]
rs6818667	0.86[EUR][1000 genomes]
rs6823002	0.86[EUR][1000 genomes]
rs6823194	0.86[EUR][1000 genomes]
rs6823421	0.86[EUR][1000 genomes]
rs6823423	0.86[EUR][1000 genomes]
rs6832562	0.86[EUR][1000 genomes]
rs6833368	0.86[EUR][1000 genomes]
rs6834095	0.86[EUR][1000 genomes]
rs6838966	0.86[EUR][1000 genomes]
rs6839074	0.86[EUR][1000 genomes]
rs6840360	0.86[EUR][1000 genomes]
rs6840678	0.86[EUR][1000 genomes]
rs6841204	0.86[EUR][1000 genomes]
rs6841783	0.86[EUR][1000 genomes]
rs6845944	0.85[EUR][1000 genomes]
rs6846114	0.86[EUR][1000 genomes]
rs6849050	0.86[EUR][1000 genomes]
rs7439465	0.85[EUR][1000 genomes]
rs749982	0.86[EUR][1000 genomes]
rs751012	0.86[EUR][1000 genomes]
rs751014	0.86[EUR][1000 genomes]
rs7663045	0.83[EUR][1000 genomes]
rs7667197	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7669977	0.83[EUR][1000 genomes]
rs7671651	0.85[EUR][1000 genomes]
rs7684350	0.83[EUR][1000 genomes]
rs907237	0.86[EUR][1000 genomes]
rs9998462	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4551	chr4:152582617-152627367	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv508322	chr4:152617079-152678951	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9995704	PET112L	cis	multi-tissue	Pritchard

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152563800-152625200	Weak transcription	Hela-S3	cervix
2	chr4:152585600-152628600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:152585800-152640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:152589200-152619200	Weak transcription	Dnd41	blood
5	chr4:152591200-152646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:152592600-152636400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:152596200-152624000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:152596400-152627800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:152596400-152628600	Weak transcription	Colonic Mucosa	Colon
10	chr4:152596400-152640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:152598400-152648200	Weak transcription	HMEC	breast
12	chr4:152598800-152620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:152599000-152637200	Weak transcription	GM12878-XiMat	blood
14	chr4:152600600-152626200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:152603000-152623200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:152604800-152620600	Weak transcription	Pancreas	Pancrea
17	chr4:152605400-152628600	Weak transcription	Aorta	Aorta
18	chr4:152608400-152621200	Weak transcription	Ovary	ovary
19	chr4:152608800-152622200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:152609000-152622800	Weak transcription	A549	lung
21	chr4:152609200-152622200	Weak transcription	Placenta	Placenta
22	chr4:152609200-152640200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:152609600-152621600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:152609600-152622000	Weak transcription	Thymus	Thymus
25	chr4:152609600-152628800	Weak transcription	HepG2	liver
26	chr4:152609600-152640400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:152609800-152619200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:152609800-152620600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:152609800-152621000	Weak transcription	Brain Angular Gyrus	brain
30	chr4:152609800-152622400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:152609800-152646200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:152610000-152619200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:152610200-152619600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:152610200-152620800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:152610200-152621000	Weak transcription	Brain Anterior Caudate	brain
36	chr4:152610400-152620600	Weak transcription	Liver	Liver
37	chr4:152610600-152621200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:152610800-152619200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr4:152610800-152621800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:152611000-152620400	Weak transcription	Lung	lung
41	chr4:152611000-152620800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:152611000-152623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:152611400-152619600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:152611800-152640000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:152612000-152622200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr4:152612000-152651000	Weak transcription	K562	blood
47	chr4:152612200-152620800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:152612200-152628800	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:152612200-152632600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:152612400-152619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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