Variant report

Variant	rs45488899
Chromosome Location	chr16:69748659-69748660
allele	C/T
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	chr16:69741680..69751385-chr16:69755023..69763559,18	MCF-7	breast:
2	chr16:69748441..69751199-chr16:69796173..69798896,2	MCF-7	breast:
3	chr16:69643797..69645480-chr16:69747465..69749100,2	K562	blood:
4	chr16:69738078..69740268-chr16:69746571..69749474,3	K562	blood:
5	chr16:69746030..69749754-chr16:69749797..69753294,3	K562	blood:
6	chr16:69744485..69751443-chr16:69758986..69763141,9	MCF-7	breast:
7	chr16:69747392..69749187-chr16:69788318..69790143,2	MCF-7	breast:
8	chr16:69747305..69749141-chr16:69786913..69788664,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141101	Chromatin interaction
ENSG00000262136	Chromatin interaction
ENSG00000198373	Chromatin interaction
ENSG00000181019	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11075729	0.81[EUR][1000 genomes]
rs11640319	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12918548	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12921782	0.83[ASN][1000 genomes]
rs12924052	0.83[ASN][1000 genomes]
rs12933210	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437134	0.83[AFR][1000 genomes]
rs1469908	0.87[ASN][1000 genomes]
rs1837016	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2017448	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2917670	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2917671	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2917677	0.87[AFR][1000 genomes]
rs2917678	0.82[ASN][1000 genomes]
rs2965749	0.82[ASN][1000 genomes]
rs3848278	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4633710	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55780735	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499241	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6499244	0.83[AFR][1000 genomes]
rs7187634	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7189878	0.83[AMR][1000 genomes]
rs7191292	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7192380	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7192543	0.81[EUR][1000 genomes]
rs7359336	0.85[AFR][1000 genomes]
rs8045432	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8049728	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8055756	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8061052	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9938213	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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 target site	54 gene(s)	inside rSNPs	diseases
2	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv517207	chr16:69745145-69771914	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69709400-69755400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:69726000-69755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:69726600-69759800	Weak transcription	Psoas Muscle	Psoas
4	chr16:69728200-69758600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:69728400-69748800	Weak transcription	Gastric	stomach
6	chr16:69728400-69759200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:69728600-69752000	Weak transcription	Fetal Brain Male	brain
8	chr16:69729400-69760000	Weak transcription	Brain Germinal Matrix	brain
9	chr16:69729400-69760000	Weak transcription	Ovary	ovary
10	chr16:69729800-69748800	Weak transcription	Esophagus	oesophagus
11	chr16:69730000-69759000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:69730600-69759800	Weak transcription	Fetal Brain Female	brain
13	chr16:69730800-69759800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:69731800-69759600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:69731800-69759800	Weak transcription	Primary B cells from cord blood	blood
16	chr16:69731800-69759800	Weak transcription	Right Ventricle	heart
17	chr16:69733800-69759800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:69736000-69758600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr16:69737200-69758800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr16:69737400-69752600	Strong transcription	HSMMtube	muscle
21	chr16:69738800-69759800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr16:69739000-69748800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:69739200-69759800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr16:69739400-69750200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr16:69740800-69758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:69741000-69759200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:69741000-69759400	Weak transcription	Small Intestine	intestine
28	chr16:69741400-69756600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:69741600-69753400	Strong transcription	HUVEC	blood vessel
30	chr16:69741600-69759800	Weak transcription	Primary T cells from cord blood	blood
31	chr16:69743800-69755600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:69743800-69758800	Weak transcription	Dnd41	blood
33	chr16:69743800-69760000	Weak transcription	Fetal Kidney	kidney
34	chr16:69744000-69759800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr16:69744200-69749000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:69744400-69750000	Strong transcription	Brain Hippocampus Middle	brain
37	chr16:69744600-69749400	Strong transcription	Placenta	Placenta
38	chr16:69744800-69749200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr16:69744800-69752800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:69745000-69752400	Strong transcription	Fetal Intestine Small	intestine
41	chr16:69745000-69752600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:69745000-69752600	Strong transcription	Fetal Stomach	stomach
43	chr16:69745000-69752600	Strong transcription	Lung	lung
44	chr16:69745000-69752800	Strong transcription	Hela-S3	cervix
45	chr16:69745400-69750600	Weak transcription	Colonic Mucosa	Colon
46	chr16:69745400-69755400	Weak transcription	K562	blood
47	chr16:69745400-69759800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr16:69745600-69748800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:69745600-69757800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:69745800-69752600	Strong transcription	Duodenum Mucosa	Duodenum

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