Variant report

Variant	rs7183834
Chromosome Location	chr15:55699218-55699219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr15:55699012-55699301	K562	blood:	n/a	n/a
2	MAX	chr15:55699020-55699322	K562	blood:	n/a	n/a
3	EGR1	chr15:55698988-55699246	K562	blood:	n/a	n/a
4	MYC	chr15:55699018-55699263	K562	blood:	n/a	n/a
5	POLR2A	chr15:55699047-55699337	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55687261..55690621-chr15:55699123..55703142,5	K562	blood:
2	chr15:55696852..55699665-chr15:55712534..55714960,2	K562	blood:
3	chr15:55607556..55615100-chr15:55699006..55703115,13	K562	blood:
4	chr15:55609877..55611698-chr15:55698360..55701817,3	MCF-7	breast:
5	chr13:29973836..29976815-chr15:55698261..55699841,2	K562	blood:
6	chr15:55487401..55489256-chr15:55698750..55700399,2	MCF-7	breast:
7	chr15:55486571..55489386-chr15:55698193..55701285,4	K562	blood:
8	chr15:55580643..55583951-chr15:55698978..55701737,3	K562	blood:
9	chr15:55486571..55488270-chr15:55698193..55700233,2	K562	blood:
10	chr15:55698446..55701018-chr15:55709702..55712524,2	MCF-7	breast:
11	chr15:55608625..55613147-chr15:55698683..55702764,8	MCF-7	breast:
12	chr15:55689930..55691529-chr15:55699148..55701673,2	MCF-7	breast:
13	chr15:55607682..55613892-chr15:55697623..55703247,7	K562	blood:
14	chr15:55694340..55696767-chr15:55697475..55699670,2	MCF-7	breast:

No data

Variant related genes	Relation type
C15orf65	TF binding region
ENSG00000225973	Chromatin interaction
ENSG00000137876	Chromatin interaction
ENSG00000069974	Chromatin interaction
ENSG00000069943	Chromatin interaction
ENSG00000261652	Chromatin interaction
ENSG00000260916	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1051099	0.82[ASN][1000 genomes]
rs11071183	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11630535	1.00[ASN][1000 genomes]
rs11635144	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11855391	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11857139	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857862	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372992	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17238297	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819096	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17819108	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2264298	0.83[ASN][1000 genomes]
rs28802286	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927575	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34372408	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35591827	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380011	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56070549	0.94[ASN][1000 genomes]
rs56132182	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56842095	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57897435	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60168254	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61008792	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6493787	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs657217	0.88[ASN][1000 genomes]
rs66519356	0.83[ASN][1000 genomes]
rs7167170	0.88[ASN][1000 genomes]
rs7174102	0.88[ASN][1000 genomes]
rs7183896	1.00[ASN][1000 genomes]
rs72742295	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72744104	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744105	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744169	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744175	0.94[ASN][1000 genomes]
rs72744187	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72744192	0.83[ASN][1000 genomes]
rs7495414	0.83[ASN][1000 genomes]
rs8038102	0.83[ASN][1000 genomes]
rs8039657	1.00[ASN][1000 genomes]
rs8042509	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8043115	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv904243	chr15:55627528-55734158	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv520799	chr15:55645661-55760522	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv904244	chr15:55687969-55770911	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55611800-55699400	Weak transcription	Colonic Mucosa	Colon
2	chr15:55637000-55699600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:55668200-55699800	Weak transcription	Spleen	Spleen
4	chr15:55676000-55699400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:55676400-55699400	Weak transcription	Right Ventricle	heart
6	chr15:55678200-55699400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:55681000-55699600	Weak transcription	Fetal Stomach	stomach
8	chr15:55681200-55699400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:55681800-55699600	Weak transcription	NHLF	lung
10	chr15:55687400-55699400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:55687400-55699400	Weak transcription	Fetal Brain Female	brain
12	chr15:55687400-55699600	Weak transcription	Left Ventricle	heart
13	chr15:55689800-55699600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:55691800-55699400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr15:55695000-55699400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr15:55695000-55699600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr15:55695000-55699600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr15:55695600-55699400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr15:55696000-55699400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:55696200-55699400	Weak transcription	Fetal Lung	lung
21	chr15:55696200-55699400	Weak transcription	NHEK	skin
22	chr15:55696200-55699600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:55696200-55699600	Weak transcription	Fetal Intestine Small	intestine
24	chr15:55696400-55699400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:55696400-55699400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:55696400-55699400	Weak transcription	Brain Angular Gyrus	brain
27	chr15:55696400-55699400	Weak transcription	Brain Anterior Caudate	brain
28	chr15:55696400-55699400	Weak transcription	Osteobl	bone
29	chr15:55696400-55699600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:55696600-55699400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:55696600-55699400	Enhancers	Primary hematopoietic stem cells	blood
32	chr15:55696600-55699400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr15:55696600-55699400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:55696600-55699600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:55696600-55699800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr15:55696800-55699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr15:55696800-55699400	Enhancers	GM12878-XiMat	blood
38	chr15:55696800-55699400	Weak transcription	HUVEC	blood vessel
39	chr15:55696800-55699600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr15:55696800-55699600	Weak transcription	Brain Substantia Nigra	brain
41	chr15:55697000-55699400	Weak transcription	Primary T cells from cord blood	blood
42	chr15:55697000-55699400	Weak transcription	Fetal Intestine Large	intestine
43	chr15:55697000-55699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:55697000-55699400	Weak transcription	HSMMtube	muscle
45	chr15:55697000-55699600	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:55697000-55699600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:55697000-55699600	Weak transcription	Fetal Thymus	thymus
48	chr15:55697200-55699600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:55697400-55699400	Weak transcription	Psoas Muscle	Psoas
50	chr15:55697600-55699600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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