Variant report

Variant	rs7668917
Chromosome Location	chr4:153020561-153020562
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	chr4:153020463..153021391-chr4:153319037..153319849,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10030518	0.82[EUR][1000 genomes]
rs13140099	0.94[ASN][1000 genomes]
rs13147317	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2406625	0.80[EUR][1000 genomes]
rs61226564	0.82[EUR][1000 genomes]
rs6535836	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535837	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535838	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6535839	0.80[EUR][1000 genomes]
rs6535840	0.82[EUR][1000 genomes]
rs6823091	0.82[EUR][1000 genomes]
rs6837375	0.82[EUR][1000 genomes]
rs6843300	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6843947	0.82[EUR][1000 genomes]
rs747110	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7671283	0.80[EUR][1000 genomes]
rs7682568	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7668917	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153009600-153021600	Enhancers	Thymus	Thymus
2	chr4:153010200-153021000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr4:153010200-153021200	Enhancers	Primary T cells from cord blood	blood
4	chr4:153013800-153021200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:153014000-153023400	Weak transcription	Fetal Brain Female	brain
6	chr4:153014200-153021600	Enhancers	Fetal Thymus	thymus
7	chr4:153014600-153021200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr4:153015200-153021600	Enhancers	Dnd41	blood
9	chr4:153015400-153020600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr4:153015400-153021000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:153015600-153020600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:153015600-153021600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:153016400-153023600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:153016600-153021600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:153016600-153022000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:153016800-153022800	Weak transcription	Fetal Heart	heart
17	chr4:153017000-153021600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:153017000-153021600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:153017200-153021200	Weak transcription	NHEK	skin
20	chr4:153017200-153021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:153017200-153021600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:153017200-153021800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:153017200-153022600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:153017200-153027000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:153017400-153021600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:153017400-153022000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:153018000-153022000	Weak transcription	Stomach Mucosa	stomach
28	chr4:153018000-153023400	Weak transcription	HSMMtube	muscle
29	chr4:153018200-153021200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr4:153018200-153021800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:153018600-153022000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:153019400-153021600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:153019800-153020600	Enhancers	Left Ventricle	heart
34	chr4:153019800-153021800	Enhancers	Primary B cells from cord blood	blood
35	chr4:153019800-153022200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:153020000-153020600	Enhancers	Fetal Muscle Leg	muscle
37	chr4:153020000-153021000	Enhancers	Spleen	Spleen
38	chr4:153020000-153025600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr4:153020200-153021600	Weak transcription	Esophagus	oesophagus
40	chr4:153020200-153021600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:153020200-153024000	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:153020200-153024800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:153020200-153025400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:153020400-153020600	Enhancers	Lung	lung
45	chr4:153020400-153023400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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