Variant report

Variant	rs62016946
Chromosome Location	chr15:50724135-50724136
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50715559..50718756-chr15:50721481..50725779,6	K562	blood:
2	chr15:50722111..50724642-chr15:50725958..50727736,2	K562	blood:
3	chr15:50723798..50726345-chr15:50728569..50731890,3	K562	blood:
4	chr15:50720844..50724808-chr15:50729367..50733038,3	K562	blood:
5	chr15:50645071..50649193-chr15:50720953..50727690,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12591094	0.87[ASN][1000 genomes]
rs2241769	0.98[ASN][1000 genomes]
rs3098172	0.86[ASN][1000 genomes]
rs3098174	0.80[EUR][1000 genomes]
rs3098204	0.85[ASN][1000 genomes]
rs3131562	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3131564	0.86[ASN][1000 genomes]
rs3131565	0.84[ASN][1000 genomes]
rs3131571	0.85[ASN][1000 genomes]
rs3131572	0.84[ASN][1000 genomes]
rs3131575	0.87[ASN][1000 genomes]
rs4318151	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55982633	0.91[ASN][1000 genomes]
rs59820977	0.85[ASN][1000 genomes]
rs7182407	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717000-50726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
3	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
5	chr15:50717800-50724200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:50717800-50724200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:50717800-50724600	Weak transcription	NH-A	brain
8	chr15:50717800-50731200	Weak transcription	Fetal Brain Female	brain
9	chr15:50717800-50731200	Weak transcription	Fetal Kidney	kidney
10	chr15:50717800-50731600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:50717800-50731600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:50717800-50732000	Weak transcription	Small Intestine	intestine
13	chr15:50717800-50732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:50717800-50732200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:50717800-50732200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:50717800-50732200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:50717800-50732200	Weak transcription	HSMMtube	muscle
18	chr15:50717800-50732200	Weak transcription	NHLF	lung
19	chr15:50717800-50732400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:50717800-50738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:50718000-50724200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:50718000-50724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:50718000-50724400	Weak transcription	NHEK	skin
25	chr15:50718000-50731200	Weak transcription	Brain Anterior Caudate	brain
26	chr15:50718000-50732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:50718000-50734600	Weak transcription	Brain Substantia Nigra	brain
28	chr15:50718000-50755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:50718000-50757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:50718200-50724400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:50718200-50724400	Weak transcription	Thymus	Thymus
32	chr15:50718200-50730800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:50718200-50731400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr15:50718200-50731400	Weak transcription	Fetal Thymus	thymus
35	chr15:50718200-50731600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:50718200-50731600	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:50718200-50732200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr15:50718400-50724400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:50718400-50724400	Weak transcription	Placenta	Placenta
40	chr15:50718400-50724600	Weak transcription	Fetal Lung	lung
41	chr15:50718400-50740400	Weak transcription	Fetal Heart	heart
42	chr15:50718800-50724200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:50718800-50728000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:50718800-50731200	Weak transcription	Adipose Nuclei	Adipose
45	chr15:50718800-50732200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:50718800-50732200	Weak transcription	HUVEC	blood vessel
47	chr15:50719000-50724400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr15:50719000-50724400	Weak transcription	Fetal Intestine Large	intestine
49	chr15:50719000-50724600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:50719000-50734400	Weak transcription	Brain Hippocampus Middle	brain

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