Variant report

Variant	rs10233465
Chromosome Location	chr7:16794316-16794317
allele	A/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16792720..16796708-chr7:16843218..16846000,6	MCF-7	breast:
2	chr7:16685517..16687243-chr7:16793230..16795207,2	K562	blood:
3	chr7:16793468..16795066-chr7:16813077..16814664,2	MCF-7	breast:
4	chr15:52263919..52265515-chr7:16793247..16794965,2	MCF-7	breast:
5	chr7:16793269..16796429-chr7:16820580..16823340,4	MCF-7	breast:
6	chr7:16793915..16797924-chr7:16812688..16815916,4	K562	blood:
7	chr7:16460318..16462710-chr7:16792580..16794734,3	K562	blood:
8	chr17:39676906..39679215-chr7:16792005..16794424,2	MCF-7	breast:
9	chr7:16684788..16686640-chr7:16792209..16794458,2	MCF-7	breast:
10	chr7:16735197..16737056-chr7:16793469..16795532,2	MCF-7	breast:
11	chr7:16776351..16778265-chr7:16793377..16796196,2	K562	blood:
12	chr7:16785410..16787895-chr7:16793449..16795182,2	MCF-7	breast:
13	chr7:16793297..16794819-chr7:16840473..16842534,2	MCF-7	breast:
14	chr7:16685077..16688645-chr7:16790567..16794834,4	K562	blood:
15	chr7:16793190..16795518-chr7:16923523..16926249,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136261	Chromatin interaction
ENSG00000106541	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000214960	Chromatin interaction
ENSG00000171346	Chromatin interaction
ENSG00000106537	Chromatin interaction
ENSG00000106524	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10238328	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1149519	0.91[ASN][1000 genomes]
rs1149522	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1149524	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1149526	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12530923	0.83[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12535558	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13244013	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1997114	0.96[ASN][1000 genomes]
rs1997115	0.99[ASN][1000 genomes]
rs2085706	1.00[ASN][1000 genomes]
rs2290836	0.84[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2290837	0.83[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs34614062	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3779051	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3807490	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3807492	0.83[CEU][hapmap];0.91[JPT][hapmap]
rs3807508	0.82[EUR][1000 genomes]
rs3807509	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3823652	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4400279	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4721535	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4721536	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4721538	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4721539	0.91[JPT][hapmap]
rs55802535	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62441050	0.86[ASN][1000 genomes]
rs6461274	0.82[YRI][hapmap]
rs6951449	0.83[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs6962578	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6975847	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6980298	0.84[ASN][1000 genomes]
rs706055	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73299615	0.84[ASN][1000 genomes]
rs747347	0.80[CEU][hapmap]
rs7781486	0.80[YRI][hapmap]
rs7781646	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7809197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818803	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs818804	0.87[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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
3	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16792800-16794400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr7:16792800-16794400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:16792800-16794400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:16792800-16794400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:16792800-16794400	Active TSS	Hela-S3	cervix
6	chr7:16792800-16794600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:16792800-16794800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:16792800-16794800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:16792800-16794800	Active TSS	Duodenum Mucosa	Duodenum
10	chr7:16792800-16794800	Active TSS	Fetal Kidney	kidney
11	chr7:16792800-16795000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr7:16792800-16795000	Active TSS	Brain Angular Gyrus	brain
13	chr7:16792800-16795000	Active TSS	Fetal Brain Male	brain
14	chr7:16792800-16795200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:16792800-16795400	Active TSS	Right Atrium	heart
16	chr7:16792800-16795600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:16792800-16796200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:16792800-16796400	Active TSS	Fetal Intestine Small	intestine
19	chr7:16792800-16796600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:16792800-16796600	Active TSS	Fetal Brain Female	brain
21	chr7:16793000-16794400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:16793000-16794400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:16793000-16794400	Active TSS	Fetal Heart	heart
24	chr7:16793000-16794400	Active TSS	NHDF-Ad	bronchial
25	chr7:16793000-16794600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:16793000-16794600	Active TSS	Brain Substantia Nigra	brain
27	chr7:16793000-16794600	Active TSS	Placenta Amnion	Placenta Amnion
28	chr7:16793000-16794800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:16793000-16794800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:16793000-16794800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:16793000-16794800	Active TSS	Esophagus	oesophagus
32	chr7:16793000-16794800	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr7:16793000-16794800	Active TSS	NHLF	lung
34	chr7:16793000-16795000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:16793000-16795000	Active TSS	Colonic Mucosa	Colon
36	chr7:16793000-16795000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:16793000-16795000	Active TSS	Fetal Lung	lung
38	chr7:16793000-16795000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
39	chr7:16793000-16795000	Active TSS	Pancreas	Pancrea
40	chr7:16793000-16795000	Active TSS	Rectal Smooth Muscle	rectum
41	chr7:16793000-16795000	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr7:16793000-16795000	Active TSS	Stomach Mucosa	stomach
43	chr7:16793000-16795000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr7:16793000-16795200	Active TSS	Brain Anterior Caudate	brain
45	chr7:16793000-16795400	Active TSS	Right Ventricle	heart
46	chr7:16793000-16795600	Active TSS	Fetal Intestine Large	intestine
47	chr7:16793000-16796000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:16793000-16796800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr7:16793200-16794400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:16793200-16794600	Active TSS	Primary B cells from peripheral blood	blood

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