Variant report

Variant	rs4400279
Chromosome Location	chr7:16804578-16804579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16792031..16793586-chr7:16802344..16804662,2	MCF-7	breast:
2	chr7:16794921..16798267-chr7:16802631..16805801,3	MCF-7	breast:
3	chr7:16794915..16798218-chr7:16804001..16806170,3	MCF-7	breast:
4	chr7:16800951..16805401-chr7:16805504..16810552,5	K562	blood:

Variant related genes	Relation type
ENSG00000106537	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10233465	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10238328	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1149519	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1149522	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1149524	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1149526	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12530923	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535558	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232235	0.89[ASN][1000 genomes]
rs13244013	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1997114	0.83[ASN][1000 genomes]
rs1997115	0.86[ASN][1000 genomes]
rs2085706	0.87[ASN][1000 genomes]
rs2290836	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290837	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34614062	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779051	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807490	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807492	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3807509	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3823652	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721535	0.86[ASN][1000 genomes]
rs4721536	0.85[ASN][1000 genomes]
rs4721538	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4721539	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55802535	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62441050	0.99[ASN][1000 genomes]
rs6951449	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6962578	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6975847	0.87[ASN][1000 genomes]
rs6980298	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs706055	0.86[ASN][1000 genomes]
rs73299615	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7781646	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7809197	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs818803	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs818804	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16795000-16806000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:16795000-16810200	Weak transcription	HMEC	breast
3	chr7:16795000-16810400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:16795200-16810000	Weak transcription	NHEK	skin
6	chr7:16795200-16810600	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:16795400-16813000	Weak transcription	Right Ventricle	heart
8	chr7:16796200-16804600	Weak transcription	Pancreas	Pancrea
9	chr7:16796200-16806400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:16796400-16810200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:16796600-16810400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:16796600-16816200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:16799000-16807800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:16799000-16810400	Weak transcription	K562	blood
15	chr7:16799600-16810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:16799600-16813000	Weak transcription	Stomach Mucosa	stomach
17	chr7:16799800-16804600	Weak transcription	Left Ventricle	heart
18	chr7:16800600-16825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:16801400-16810600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:16801600-16811200	Weak transcription	Spleen	Spleen
21	chr7:16802200-16804600	Weak transcription	Small Intestine	intestine
22	chr7:16802200-16810800	Weak transcription	Fetal Heart	heart
23	chr7:16802400-16804800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:16802800-16804600	Weak transcription	Fetal Intestine Large	intestine
25	chr7:16802800-16805200	Strong transcription	Primary B cells from cord blood	blood
26	chr7:16802800-16817800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:16803200-16804600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:16803400-16806000	Weak transcription	Gastric	stomach
29	chr7:16803400-16810200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:16803600-16804600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:16803600-16805000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:16803600-16805000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:16803600-16805800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:16803600-16818000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:16803800-16825600	Weak transcription	Fetal Intestine Small	intestine
36	chr7:16804200-16804600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:16804200-16805000	Enhancers	HUVEC	blood vessel
38	chr7:16804400-16804600	Enhancers	Fetal Brain Male	brain
39	chr7:16804400-16805200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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