Variant report

Variant	rs16900452
Chromosome Location	chr8:126243100-126243101
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126238065..126239621-chr8:126240641..126243197,2	MCF-7	breast:
2	chr8:126243073..126243669-chr8:126444185..126445140,3	K562	blood:
3	chr8:126242635..126243621-chr8:126443819..126445311,8	MCF-7	breast:
4	chr8:126242140..126245114-chr8:126252061..126254189,2	MCF-7	breast:
5	chr8:126242873..126243430-chr8:126656534..126657424,2	MCF-7	breast:
6	chr8:126242716..126243479-chr9:128620869..128621438,2	MCF-7	breast:
7	chr8:126242033..126243257-chr8:126442565..126443586,3	MCF-7	breast:
8	chr8:126240954..126245383-chr8:126440692..126445687,11	MCF-7	breast:
9	chr1:117902963..117904475-chr8:126241925..126243641,2	MCF-7	breast:
10	chr8:126242612..126243392-chr8:126443506..126444520,3	MCF-7	breast:
11	chr8:126242622..126243172-chr8:126712609..126713592,2	MCF-7	breast:
12	chr8:126242492..126244562-chr8:126657053..126658910,2	MCF-7	breast:
13	chr8:126242654..126243238-chr8:126601971..126602543,2	MCF-7	breast:
14	chr8:126239983..126246163-chr8:126440449..126448219,20	MCF-7	breast:
15	chr8:126241249..126243357-chr8:126435233..126437414,2	MCF-7	breast:
16	chr8:126242871..126243528-chr8:126438843..126439606,2	MCF-7	breast:
17	chr8:126242892..126244647-chr8:126443268..126445265,2	K562	blood:
18	chr8:126242585..126243276-chr8:126656554..126657086,2	K562	blood:
19	chr8:126130235..126131316-chr8:126242799..126243406,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12675943	0.84[EUR][1000 genomes]
rs13253942	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254947	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259062	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262348	0.95[ASN][1000 genomes]
rs13264500	0.94[EUR][1000 genomes]
rs13267325	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273034	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273231	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273421	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384882	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110249	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427316	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448805	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461511	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694976	0.95[ASN][1000 genomes]
rs34737949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903473	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140299	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35215140	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336507	0.86[EUR][1000 genomes]
rs35401436	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35475899	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774093	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822368	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861494	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955519	0.86[EUR][1000 genomes]
rs35991395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081564	1.00[ASN][1000 genomes]
rs3923300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4360308	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601329	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	0.95[ASN][1000 genomes]
rs56135036	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66561774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826725	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66929016	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516763	0.92[ASN][1000 genomes]
rs71516769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720550	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720569	0.88[EUR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126245200	Weak transcription	Pancreas	Pancrea
3	chr8:126233800-126249600	Weak transcription	Gastric	stomach
4	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
5	chr8:126235600-126243800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:126237800-126243400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:126237800-126246000	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:126238800-126244600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:126238800-126244800	Weak transcription	Adipose Nuclei	Adipose
10	chr8:126238800-126253600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:126239000-126243400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:126239000-126244800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:126239000-126244800	Weak transcription	Osteobl	bone
14	chr8:126239200-126243400	Weak transcription	HepG2	liver
15	chr8:126239200-126245200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:126239400-126243600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:126239400-126244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:126239600-126243200	Weak transcription	Primary B cells from cord blood	blood
19	chr8:126239600-126244000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:126239600-126245200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:126239800-126246200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
24	chr8:126240800-126245400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:126241000-126246000	Weak transcription	Ovary	ovary
26	chr8:126241000-126247000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:126241000-126250200	Weak transcription	Psoas Muscle	Psoas
28	chr8:126241200-126243400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:126241200-126251200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:126241400-126258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:126241600-126243400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:126241600-126243600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:126241600-126244800	Weak transcription	NHLF	lung
34	chr8:126241600-126245600	Enhancers	A549	lung
35	chr8:126241600-126246800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:126242000-126243800	Enhancers	NHEK	skin
37	chr8:126242200-126243800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:126242200-126243800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:126242400-126243200	Enhancers	Brain Angular Gyrus	brain
40	chr8:126242400-126243200	Enhancers	Brain Anterior Caudate	brain
41	chr8:126242400-126243400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:126242400-126243600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:126242400-126243600	Enhancers	NHDF-Ad	bronchial
44	chr8:126242400-126243800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:126242400-126243800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:126242400-126244200	Enhancers	Brain Hippocampus Middle	brain
47	chr8:126242400-126244200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:126242400-126244200	Enhancers	Brain Substantia Nigra	brain
49	chr8:126242400-126246000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr8:126242400-126246000	Enhancers	Monocytes-CD14+_RO01746	blood

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