Variant report

Variant	rs13234328
Chromosome Location	chr7:5434598-5434599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5434488..5436637-chr7:5491001..5493945,3	K562	blood:
2	chr7:5431460..5434900-chr7:5435582..5438933,4	MCF-7	breast:
3	chr7:5420682..5423339-chr7:5431916..5434654,3	MCF-7	breast:
4	chr7:5427419..5438627-chr7:5461902..5471481,26	MCF-7	breast:
5	chr7:5430820..5432432-chr7:5432742..5434912,2	K562	blood:
6	chr7:5425693..5431327-chr7:5431953..5435253,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182095	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000273084	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10233187	0.88[EUR][1000 genomes]
rs11973300	0.88[EUR][1000 genomes]
rs4724664	0.87[EUR][1000 genomes]
rs4724665	0.87[EUR][1000 genomes]
rs6957458	0.88[EUR][1000 genomes]
rs7791057	0.88[EUR][1000 genomes]
rs7791840	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	nsv823996	chr7:5285503-5465988	Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
8	nsv887397	chr7:5315557-5450031	Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
10	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
11	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv887400	chr7:5393243-5441337	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
14	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
15	nsv887403	chr7:5399044-5450031	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
17	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
18	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
19	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
20	esv1817740	chr7:5427128-5436368	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
21	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
22	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5413600-5435000	Weak transcription	HSMM	muscle
2	chr7:5423200-5435200	Strong transcription	Fetal Intestine Large	intestine
3	chr7:5423200-5436400	Weak transcription	Right Atrium	heart
4	chr7:5423400-5436400	Strong transcription	Fetal Intestine Small	intestine
5	chr7:5423400-5436400	Weak transcription	Psoas Muscle	Psoas
6	chr7:5423600-5434800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:5423600-5443600	Weak transcription	Fetal Brain Male	brain
8	chr7:5424000-5437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:5424400-5439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:5424800-5434600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:5424800-5434600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:5424800-5435400	Strong transcription	Fetal Muscle Leg	muscle
13	chr7:5424800-5436200	Strong transcription	Fetal Stomach	stomach
14	chr7:5424800-5447000	Weak transcription	Fetal Heart	heart
15	chr7:5425800-5435000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:5425800-5436200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:5425800-5447000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:5426000-5435000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:5426000-5435000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:5426000-5444200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:5426200-5434600	Strong transcription	Brain Germinal Matrix	brain
22	chr7:5426800-5434600	Strong transcription	NHEK	skin
23	chr7:5426800-5435000	Strong transcription	Right Ventricle	heart
24	chr7:5427000-5446800	Weak transcription	NH-A	brain
25	chr7:5427400-5435000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:5427400-5437400	Weak transcription	K562	blood
27	chr7:5427400-5445600	Weak transcription	Fetal Kidney	kidney
28	chr7:5427600-5434800	Weak transcription	Stomach Mucosa	stomach
29	chr7:5427600-5442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:5428800-5434600	Strong transcription	A549	lung
31	chr7:5429000-5437000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:5429200-5434600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr7:5429200-5444400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:5429600-5435000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr7:5429600-5435200	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr7:5430000-5435000	Strong transcription	Osteobl	bone
37	chr7:5431000-5436600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:5431600-5434600	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr7:5431600-5435200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:5432400-5434600	Strong transcription	Colon Smooth Muscle	Colon
41	chr7:5432800-5435000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:5433200-5445200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:5433400-5434800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr7:5433400-5434800	Weak transcription	Brain Anterior Caudate	brain
45	chr7:5433400-5435400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:5433400-5436200	Weak transcription	Small Intestine	intestine
47	chr7:5433600-5435400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr7:5433800-5434600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:5433800-5434600	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr7:5433800-5434600	Genic enhancers	Lung	lung

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