Variant report

Variant	rs2623291
Chromosome Location	chr15:52231822-52231823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52230609..52232827-chr15:52238038..52240030,2	MCF-7	breast:
2	chr15:52223859..52226677-chr15:52229805..52233485,3	K562	blood:
3	chr15:52230429..52232477-chr15:52262084..52265440,3	MCF-7	breast:
4	chr15:52229311..52232260-chr15:52262799..52264700,2	K562	blood:
5	chr15:52230761..52232495-chr15:52232835..52234665,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166477	Chromatin interaction
ENSG00000138594	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16953082	0.90[ASN][1000 genomes]
rs16964532	0.90[ASN][1000 genomes]
rs16964555	0.90[ASN][1000 genomes]
rs16964561	0.90[ASN][1000 genomes]
rs16964579	0.90[ASN][1000 genomes]
rs16964585	0.90[ASN][1000 genomes]
rs16964596	0.90[ASN][1000 genomes]
rs16964639	0.90[ASN][1000 genomes]
rs16964645	0.90[ASN][1000 genomes]
rs1863429	0.81[AMR][1000 genomes]
rs1972419	0.87[AMR][1000 genomes]
rs1991267	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258248	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2554354	0.87[AMR][1000 genomes]
rs2554355	0.87[AMR][1000 genomes]
rs2570243	0.85[AMR][1000 genomes]
rs2570265	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593169	0.94[AMR][1000 genomes]
rs2593181	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593184	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623245	0.87[AMR][1000 genomes]
rs2623247	0.87[AMR][1000 genomes]
rs2623251	0.87[AMR][1000 genomes]
rs2623263	0.89[AMR][1000 genomes]
rs2623270	0.87[AMR][1000 genomes]
rs2623280	0.94[AMR][1000 genomes]
rs2959296	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569409	chr15:52028914-52268144	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2830255	chr15:52133914-52274863	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1053788	chr15:52223389-52307138	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52179600-52259800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:52193400-52232800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:52193600-52233600	Weak transcription	Fetal Brain Male	brain
4	chr15:52194400-52236800	Weak transcription	Fetal Kidney	kidney
5	chr15:52194400-52239000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr15:52196200-52234000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:52197000-52234200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:52197000-52234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:52200400-52262200	Weak transcription	Stomach Mucosa	stomach
10	chr15:52201000-52238800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:52204800-52238800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:52210000-52233600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:52210000-52239000	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:52211600-52237600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:52211600-52239200	Weak transcription	Right Ventricle	heart
16	chr15:52212400-52241600	Weak transcription	Small Intestine	intestine
17	chr15:52215200-52234000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:52216000-52238600	Weak transcription	Pancreas	Pancrea
19	chr15:52216400-52234200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:52217200-52238400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:52217200-52238800	Weak transcription	Brain Angular Gyrus	brain
22	chr15:52217600-52234200	Weak transcription	NHLF	lung
23	chr15:52217600-52238800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:52217800-52237400	Weak transcription	Aorta	Aorta
25	chr15:52217800-52237400	Weak transcription	Brain Anterior Caudate	brain
26	chr15:52217800-52239000	Weak transcription	Gastric	stomach
27	chr15:52218000-52243200	Weak transcription	Fetal Heart	heart
28	chr15:52218200-52234200	Weak transcription	Esophagus	oesophagus
29	chr15:52221600-52233600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:52222600-52259800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:52222800-52236200	Strong transcription	Fetal Stomach	stomach
32	chr15:52223000-52233400	Weak transcription	HSMM	muscle
33	chr15:52223200-52232000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:52223200-52245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:52223400-52234200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr15:52224000-52237400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr15:52224200-52233400	Weak transcription	NHDF-Ad	bronchial
38	chr15:52224200-52237200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:52225000-52232400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:52226000-52232200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr15:52226000-52232400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:52226000-52232600	Strong transcription	Fetal Muscle Leg	muscle
43	chr15:52226000-52255200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:52226200-52232000	Strong transcription	Primary T cells from cord blood	blood
45	chr15:52226200-52234600	Strong transcription	Fetal Thymus	thymus
46	chr15:52226200-52242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:52226200-52254800	Strong transcription	Thymus	Thymus
48	chr15:52226200-52255000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr15:52226200-52259400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:52226400-52233200	Weak transcription	Left Ventricle	heart

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