Variant report

Variant	rs45504895
Chromosome Location	chr15:40995916-40995917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40995522..40997784-chr15:41002139..41003816,2	K562	blood:
2	chr15:40986986..40988928-chr15:40995699..40999110,3	K562	blood:
3	chr15:40991175..40993650-chr15:40995773..40997276,2	K562	blood:

Variant related genes	Relation type
ENSG00000051180	Chromatin interaction
ENSG00000245849	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1801320	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304579	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4144242	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45455000	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45503494	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45507396	0.98[EUR][1000 genomes]
rs45559631	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45579836	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45585734	0.98[EUR][1000 genomes]
rs5030786	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57140606	0.80[AMR][1000 genomes]
rs57736474	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57936990	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58458955	0.93[EUR][1000 genomes]
rs59654927	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60408076	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61381741	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73396510	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73396515	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	nsv904099	chr15:40949526-41041875	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv529030	chr15:40956471-41012695	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
7	nsv527234	chr15:40987725-41031686	Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2478123	chr15:40994786-40996218	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40988000-40999400	Weak transcription	Right Atrium	heart
2	chr15:40988000-41030000	Weak transcription	Pancreas	Pancrea
3	chr15:40988200-41001200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:40988200-41028600	Weak transcription	Spleen	Spleen
5	chr15:40988400-40998000	Weak transcription	Fetal Intestine Large	intestine
6	chr15:40988400-41020600	Weak transcription	Placenta	Placenta
7	chr15:40988400-41020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:40988400-41021600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:40988400-41021800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:40988400-41027200	Weak transcription	Primary B cells from cord blood	blood
11	chr15:40988400-41031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:40988600-40998400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:40988600-41000800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr15:40988600-41001200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:40988600-41007800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:40988600-41018400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:40988600-41021400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:40988600-41021400	Weak transcription	Fetal Brain Female	brain
19	chr15:40988800-40998600	Weak transcription	Gastric	stomach
20	chr15:40988800-40998600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:40988800-41000800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:40988800-41000800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:40988800-41000800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:40988800-41001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:40988800-41002800	Weak transcription	Brain Germinal Matrix	brain
26	chr15:40988800-41020600	Weak transcription	Primary T cells from cord blood	blood
27	chr15:40988800-41021600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:40988800-41021800	Weak transcription	Fetal Kidney	kidney
29	chr15:40989000-41001000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:40989000-41001200	Weak transcription	Fetal Lung	lung
31	chr15:40989000-41012000	Weak transcription	NHLF	lung
32	chr15:40989000-41018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:40989200-40997200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:40989200-40997200	Weak transcription	NHEK	skin
35	chr15:40989200-40998000	Weak transcription	Fetal Heart	heart
36	chr15:40989200-41001200	Weak transcription	A549	lung
37	chr15:40989200-41002800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:40990000-41004800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:40990200-40999400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:40990200-41006800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:40990200-41013200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr15:40990200-41016800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:40990200-41016800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:40990600-41015000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:40990600-41022600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:40990800-40996000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:40990800-41005000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:40990800-41005200	Strong transcription	Fetal Thymus	thymus
49	chr15:40990800-41005400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr15:40990800-41016000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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