Variant report

Variant	rs855727
Chromosome Location	chr7:149434692-149434693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:149411516..149414447-chr7:149432476..149435059,2	MCF-7	breast:
2	chr7:149433441..149435598-chr7:149486933..149488751,2	K562	blood:
3	chr7:149429899..149432535-chr7:149434356..149436094,2	MCF-7	breast:
4	chr7:149425259..149429446-chr7:149430985..149435118,9	K562	blood:
5	chr7:149363386..149365475-chr7:149433480..149435418,2	K562	blood:

Variant related genes	Relation type
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs855743	0.86[EUR][1000 genomes]
rs855749	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs855751	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs855757	0.83[EUR][1000 genomes]
rs863042	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149412800-149438800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:149414800-149438800	Weak transcription	Fetal Brain Male	brain
3	chr7:149417600-149438800	Weak transcription	GM12878-XiMat	blood
4	chr7:149418000-149438800	Weak transcription	A549	lung
5	chr7:149420200-149439200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:149420200-149439400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:149423400-149439200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:149425200-149439200	Weak transcription	Fetal Kidney	kidney
9	chr7:149426600-149439400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:149427000-149439200	Weak transcription	Fetal Lung	lung
11	chr7:149427200-149438800	Weak transcription	Liver	Liver
12	chr7:149427200-149438800	Weak transcription	Right Atrium	heart
13	chr7:149427800-149438800	Weak transcription	Psoas Muscle	Psoas
14	chr7:149429000-149439000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:149430000-149439600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:149430200-149439400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:149430400-149438600	Weak transcription	Brain Substantia Nigra	brain
18	chr7:149430400-149438800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:149430600-149439000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:149430800-149439200	Weak transcription	Aorta	Aorta
21	chr7:149431000-149438600	Weak transcription	Brain Angular Gyrus	brain
22	chr7:149431000-149438800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:149431000-149439000	Weak transcription	Gastric	stomach
24	chr7:149431000-149439200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:149431200-149438800	Weak transcription	Pancreas	Pancrea
26	chr7:149431200-149439200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:149431400-149438800	Weak transcription	Colonic Mucosa	Colon
28	chr7:149431600-149438600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:149431600-149438600	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:149431600-149438800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:149432000-149438800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:149432000-149438800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:149432000-149438800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:149432000-149438800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:149432000-149438800	Weak transcription	Left Ventricle	heart
36	chr7:149432000-149439000	Weak transcription	Fetal Intestine Small	intestine
37	chr7:149432400-149438800	Weak transcription	Brain Anterior Caudate	brain
38	chr7:149432400-149438800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:149432400-149438800	Weak transcription	Right Ventricle	heart
40	chr7:149432600-149438800	Weak transcription	Spleen	Spleen
41	chr7:149433600-149438800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:149433800-149438800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:149434000-149438400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:149434000-149438800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:149434000-149439000	Weak transcription	Brain Germinal Matrix	brain
46	chr7:149434200-149438800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:149434200-149438800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:149434200-149438800	Weak transcription	K562	blood

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