Variant report

Variant	rs7168217
Chromosome Location	chr15:40943322-40943323
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40888439..40890299-chr15:40942541..40945027,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10220885	1.00[EUR][1000 genomes]
rs12323939	1.00[EUR][1000 genomes]
rs16971119	1.00[EUR][1000 genomes]
rs45501094	1.00[EUR][1000 genomes]
rs45571032	1.00[EUR][1000 genomes]
rs45604436	1.00[EUR][1000 genomes]
rs55896567	1.00[EUR][1000 genomes]
rs55906732	1.00[EUR][1000 genomes]
rs56020318	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56229816	1.00[EUR][1000 genomes]
rs56908156	0.82[AFR][1000 genomes]
rs57022654	1.00[AMR][1000 genomes]
rs57242620	1.00[EUR][1000 genomes]
rs57288992	1.00[EUR][1000 genomes]
rs58097169	1.00[EUR][1000 genomes]
rs58101670	0.97[AFR][1000 genomes]
rs58375351	1.00[EUR][1000 genomes]
rs58681580	1.00[EUR][1000 genomes]
rs58738238	1.00[EUR][1000 genomes]
rs58893179	1.00[AMR][1000 genomes]
rs59204074	1.00[AMR][1000 genomes]
rs59508492	1.00[EUR][1000 genomes]
rs59528823	1.00[EUR][1000 genomes]
rs59558714	1.00[EUR][1000 genomes]
rs60109064	1.00[EUR][1000 genomes]
rs60111609	1.00[EUR][1000 genomes]
rs60163307	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60578270	1.00[EUR][1000 genomes]
rs60822673	1.00[EUR][1000 genomes]
rs6492962	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs6492963	1.00[EUR][1000 genomes]
rs7161941	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs7162253	1.00[AMR][1000 genomes]
rs7162308	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7164574	1.00[EUR][1000 genomes]
rs7166733	1.00[EUR][1000 genomes]
rs7167831	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7169273	1.00[EUR][1000 genomes]
rs7171451	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7171898	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs7172356	1.00[EUR][1000 genomes]
rs7178058	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7178244	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7182066	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7182516	1.00[EUR][1000 genomes]
rs74011880	1.00[EUR][1000 genomes]
rs74011881	1.00[EUR][1000 genomes]
rs74011884	1.00[EUR][1000 genomes]
rs74011886	1.00[EUR][1000 genomes]
rs74011887	1.00[EUR][1000 genomes]
rs74011888	1.00[EUR][1000 genomes]
rs74011889	1.00[AMR][1000 genomes]
rs74011890	1.00[AMR][1000 genomes]
rs74011893	1.00[AMR][1000 genomes]
rs74011933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011936	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025846	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs8030491	0.87[AFR][1000 genomes]
rs8033915	0.84[AFR][1000 genomes]
rs8035580	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8037717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8037881	1.00[AMR][1000 genomes]
rs8038751	1.00[EUR][1000 genomes]
rs8039169	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039942	1.00[EUR][1000 genomes]
rs8040579	1.00[EUR][1000 genomes]
rs8040925	1.00[EUR][1000 genomes]
rs9672224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9744142	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1841263	chr15:40902453-40966765	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40887800-40948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:40887800-40961600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:40888000-40956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:40888400-40944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:40897800-40957200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:40900000-40943600	Weak transcription	NH-A	brain
7	chr15:40903000-40956000	Weak transcription	Fetal Heart	heart
8	chr15:40903600-40956600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:40903800-40955800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:40903800-40956600	Weak transcription	Fetal Lung	lung
11	chr15:40912200-40951400	Weak transcription	Fetal Kidney	kidney
12	chr15:40913800-40986000	Weak transcription	A549	lung
13	chr15:40914400-40960000	Weak transcription	NHLF	lung
14	chr15:40919200-40957600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr15:40919400-40956800	Strong transcription	Fetal Thymus	thymus
16	chr15:40919800-40950200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr15:40922600-40943800	Weak transcription	Hela-S3	cervix
18	chr15:40922800-40944000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:40922800-40944000	Weak transcription	NHEK	skin
20	chr15:40922800-40954200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:40922800-40956000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:40923000-40954400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:40923200-40947000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:40924000-40956600	Weak transcription	Fetal Brain Female	brain
25	chr15:40924400-40943600	Weak transcription	Osteobl	bone
26	chr15:40925000-40956200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr15:40925400-40956000	Weak transcription	Brain Germinal Matrix	brain
28	chr15:40926000-40947200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:40926000-40958800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:40928200-40949400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:40928200-40951200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:40928600-40945600	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:40928600-40958000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:40931400-40944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:40932600-40946800	Weak transcription	Fetal Stomach	stomach
36	chr15:40934200-40945000	Weak transcription	HSMM	muscle
37	chr15:40934200-40949400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr15:40936400-40943600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:40936400-40944600	Weak transcription	Thymus	Thymus
40	chr15:40938400-40943400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:40938400-40943600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:40939800-40956800	Strong transcription	Dnd41	blood
43	chr15:40939800-40956800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr15:40941000-40944200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr15:40941400-40957600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:40941800-40946800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:40942000-40946400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:40942000-40947400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr15:40942000-40947600	Strong transcription	HUVEC	blood vessel
50	chr15:40942000-40959000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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