Variant report

Variant	rs1706812
Chromosome Location	chr15:45454773-45454774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45453204..45457090-chr15:45457382..45460922,8	K562	blood:
2	chr15:45417539..45419456-chr15:45453596..45456552,2	K562	blood:
3	chr15:45454342..45456403-chr15:45741288..45744175,2	MCF-7	breast:
4	chr15:45454280..45456253-chr15:45491439..45493847,2	K562	blood:
5	chr15:45453899..45457914-chr15:45495194..45498173,3	K562	blood:
6	chr15:45452958..45457175-chr15:45457544..45460484,6	MCF-7	breast:
7	chr15:45452614..45456559-chr15:45457211..45461369,7	MCF-7	breast:
8	chr15:45454753..45457923-chr15:45490933..45493735,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260035	Chromatin interaction
ENSG00000259354	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000259539	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1620253	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648304	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648307	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648308	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648310	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648312	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648313	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648318	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706807	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706808	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706811	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706815	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1706817	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706820	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706826	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162246	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292468	0.96[EUR][1000 genomes]
rs2458237	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467819	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467820	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169193	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv569313	chr15:45413541-45457458	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv520580	chr15:45438537-45457349	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
11	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
2	chr15:45434800-45457800	Weak transcription	Adipose Nuclei	Adipose
3	chr15:45438800-45455000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:45439000-45454800	Weak transcription	Stomach Mucosa	stomach
5	chr15:45439000-45457800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:45439000-45458000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:45439400-45454800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:45439800-45455000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:45440400-45455000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr15:45440400-45458600	Weak transcription	Aorta	Aorta
11	chr15:45441000-45458000	Weak transcription	Primary T cells from cord blood	blood
12	chr15:45441200-45458000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr15:45441600-45454800	Weak transcription	Left Ventricle	heart
14	chr15:45442000-45455000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:45442200-45455000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:45442200-45457600	Weak transcription	Small Intestine	intestine
17	chr15:45442400-45458000	Weak transcription	Primary B cells from cord blood	blood
18	chr15:45443400-45458000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:45444600-45455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:45444800-45454800	Weak transcription	Pancreas	Pancrea
21	chr15:45444800-45454800	Weak transcription	Spleen	Spleen
22	chr15:45444800-45455200	Weak transcription	Ovary	ovary
23	chr15:45444800-45457400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:45445000-45454800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:45445000-45455000	Weak transcription	Fetal Intestine Large	intestine
26	chr15:45445000-45455000	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:45445000-45455000	Weak transcription	Fetal Stomach	stomach
28	chr15:45445000-45455000	Weak transcription	Thymus	Thymus
29	chr15:45445200-45455200	Weak transcription	Right Ventricle	heart
30	chr15:45448400-45457800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:45449400-45455000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr15:45449400-45457200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:45449400-45458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:45449800-45455000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:45450200-45454800	Weak transcription	HSMM	muscle
36	chr15:45450400-45454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:45450400-45454800	Weak transcription	Fetal Intestine Small	intestine
38	chr15:45450400-45455200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:45450400-45455200	Weak transcription	K562	blood
40	chr15:45450400-45457400	Weak transcription	Fetal Brain Female	brain
41	chr15:45450600-45454800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:45450600-45454800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:45450600-45454800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:45450600-45454800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:45450600-45454800	Weak transcription	HSMMtube	muscle
46	chr15:45450600-45454800	Weak transcription	NH-A	brain
47	chr15:45450600-45455000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:45450600-45455000	Weak transcription	Brain Angular Gyrus	brain
49	chr15:45450600-45455000	Weak transcription	NHDF-Ad	bronchial
50	chr15:45450600-45455200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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