Variant report

Variant	rs472385
Chromosome Location	chr15:44186844-44186845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44185248..44189822-chr15:44193811..44195914,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12442297	0.92[ASN][1000 genomes]
rs28413881	0.85[ASN][1000 genomes]
rs524908	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs602370	0.92[EUR][1000 genomes]
rs663214	0.81[AMR][1000 genomes]
rs67541383	0.85[ASN][1000 genomes]
rs686666	0.85[AMR][1000 genomes]
rs688009	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7181039	0.91[ASN][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	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak 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	154 gene(s)	inside rSNPs	diseases
5	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
6	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs472385	AC011330.5	cis	Thyroid	GTEx
rs472385	STRCP1	cis	Whole Blood	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44156800-44206400	Weak transcription	Fetal Brain Male	brain
2	chr15:44166800-44193800	Weak transcription	Spleen	Spleen
3	chr15:44166800-44196200	Weak transcription	Osteobl	bone
4	chr15:44170600-44188800	Weak transcription	NHDF-Ad	bronchial
5	chr15:44173600-44208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:44173800-44190000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:44173800-44193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:44174200-44194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:44174200-44195800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:44174200-44195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:44176600-44192000	Weak transcription	Hela-S3	cervix
14	chr15:44176800-44193600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:44177000-44187400	Weak transcription	Brain Substantia Nigra	brain
16	chr15:44177200-44192000	Weak transcription	A549	lung
17	chr15:44177200-44192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:44178200-44197800	Weak transcription	NHLF	lung
19	chr15:44178400-44189400	Enhancers	Fetal Heart	heart
20	chr15:44179000-44192000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:44179400-44193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:44180000-44195800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:44180800-44192400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:44182400-44187800	Weak transcription	NH-A	brain
25	chr15:44183200-44193000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:44183400-44191800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:44183400-44197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:44184000-44188800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:44184000-44194200	Weak transcription	HUVEC	blood vessel
30	chr15:44184400-44187800	Weak transcription	Brain Anterior Caudate	brain
31	chr15:44184400-44190400	Weak transcription	Brain Germinal Matrix	brain
32	chr15:44184600-44188400	Weak transcription	Fetal Brain Female	brain
33	chr15:44184800-44190800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:44185000-44188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:44185200-44188000	Enhancers	Left Ventricle	heart
36	chr15:44185400-44187000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:44185400-44187200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:44185400-44187600	Enhancers	Fetal Muscle Leg	muscle
39	chr15:44185400-44188000	Enhancers	HSMMtube	muscle
40	chr15:44185400-44188400	Enhancers	Pancreas	Pancrea
41	chr15:44185600-44188200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:44185600-44188200	Enhancers	Stomach Smooth Muscle	stomach
43	chr15:44185800-44187000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr15:44185800-44187600	Weak transcription	Brain Angular Gyrus	brain
45	chr15:44186000-44187000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:44186000-44187200	Enhancers	Brain Cingulate Gyrus	brain
47	chr15:44186000-44188000	Weak transcription	Right Atrium	heart
48	chr15:44186200-44187000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:44186200-44193200	Weak transcription	HMEC	breast
50	chr15:44186200-44197800	Weak transcription	NHEK	skin

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