Variant report

Variant	rs483165
Chromosome Location	chr15:44190843-44190844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44183971..44186797-chr15:44189932..44192370,2	K562	blood:
2	chr15:44190087..44193923-chr15:44195170..44198299,3	K562	blood:
3	chr15:44188604..44190452-chr15:44190792..44193773,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2059625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2733218	1.00[AMR][1000 genomes]
rs2733225	1.00[EUR][1000 genomes]
rs28537381	1.00[EUR][1000 genomes]
rs2899104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2930527	1.00[EUR][1000 genomes]
rs2930532	1.00[EUR][1000 genomes]
rs2930534	1.00[EUR][1000 genomes]
rs35093130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs475758	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs4924721	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs494774	1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs612258	1.00[EUR][1000 genomes]
rs656473	1.00[EUR][1000 genomes]
rs7171948	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	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

No data

Chromatin state (count:58 , 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	chr15:44173600-44208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:44173800-44193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:44174200-44194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:44174200-44195800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:44174200-44195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:44176600-44192000	Weak transcription	Hela-S3	cervix
12	chr15:44176800-44193600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:44177200-44192000	Weak transcription	A549	lung
14	chr15:44177200-44192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:44178200-44197800	Weak transcription	NHLF	lung
16	chr15:44179000-44192000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:44179400-44193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:44180000-44195800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:44180800-44192400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:44183200-44193000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:44183400-44191800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:44183400-44197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:44184000-44194200	Weak transcription	HUVEC	blood vessel
24	chr15:44186200-44193200	Weak transcription	HMEC	breast
25	chr15:44186200-44197800	Weak transcription	NHEK	skin
26	chr15:44186400-44191000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:44186600-44192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:44187000-44203600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:44187200-44191200	Weak transcription	Right Ventricle	heart
30	chr15:44187600-44196000	Weak transcription	Fetal Muscle Leg	muscle
31	chr15:44187800-44195800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:44188000-44191800	Weak transcription	Left Ventricle	heart
33	chr15:44188000-44192600	Weak transcription	HSMMtube	muscle
34	chr15:44188200-44191200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:44188400-44194600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:44189000-44191000	Weak transcription	Fetal Brain Female	brain
37	chr15:44189000-44191800	Weak transcription	Brain Angular Gyrus	brain
38	chr15:44189200-44193400	Weak transcription	Brain Anterior Caudate	brain
39	chr15:44189200-44197800	Weak transcription	NH-A	brain
40	chr15:44189400-44191800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:44189400-44193600	Weak transcription	NHDF-Ad	bronchial
42	chr15:44190000-44191000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:44190000-44191600	Weak transcription	Brain Substantia Nigra	brain
44	chr15:44190000-44192600	Strong transcription	Brain Hippocampus Middle	brain
45	chr15:44190000-44194800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:44190200-44191400	Strong transcription	Brain Cingulate Gyrus	brain
47	chr15:44190400-44191000	Strong transcription	Brain Germinal Matrix	brain
48	chr15:44190400-44191200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr15:44190400-44192000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:44190600-44191200	Enhancers	Ovary	ovary

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