Variant report

Variant	rs34887879
Chromosome Location	chr7:127224417-127224418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127224228-127224426	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr7:127223511-127226381	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:
2	chr7:127210811..127213532-chr7:127222493..127224995,2	K562	blood:
3	chr7:127193697..127196034-chr7:127222065..127224629,3	K562	blood:
4	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
5	chr7:127224289..127226040-chr7:127290840..127293019,2	MCF-7	breast:
6	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:

No data

Variant related genes	Relation type
ARF5	TF binding region
ENSG00000004059	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2233574	1.00[AMR][1000 genomes]
rs2285348	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450906	1.00[EUR][1000 genomes]
rs7786739	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127223000-127224800	Enhancers	Small Intestine	intestine
2	chr7:127223400-127224800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:127223400-127224800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:127223400-127225200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:127223600-127224600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:127223600-127224800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr7:127223600-127225000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:127223600-127225000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:127223600-127225000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr7:127223600-127225000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:127223600-127225000	Flanking Active TSS	NHEK	skin
12	chr7:127223600-127225000	Flanking Active TSS	NHLF	lung
13	chr7:127223600-127225200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr7:127223600-127225200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:127223600-127225200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:127223600-127225200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr7:127223600-127225200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:127223600-127225200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr7:127223600-127225200	Flanking Active TSS	HUVEC	blood vessel
20	chr7:127223800-127224600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:127223800-127224600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:127223800-127224800	Flanking Active TSS	HepG2	liver
23	chr7:127223800-127224800	Flanking Active TSS	NHDF-Ad	bronchial
24	chr7:127223800-127225000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:127223800-127225000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:127223800-127225000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr7:127223800-127225000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:127223800-127225000	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr7:127223800-127225000	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr7:127223800-127225000	Flanking Active TSS	Psoas Muscle	Psoas
31	chr7:127223800-127225000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr7:127223800-127225000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr7:127223800-127225000	Flanking Active TSS	Right Atrium	heart
34	chr7:127223800-127225000	Flanking Active TSS	Hela-S3	cervix
35	chr7:127223800-127225000	Flanking Active TSS	Osteobl	bone
36	chr7:127223800-127225200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr7:127223800-127225200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr7:127223800-127225200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr7:127223800-127225200	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr7:127223800-127225200	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr7:127223800-127225200	Flanking Active TSS	Colonic Mucosa	Colon
42	chr7:127223800-127225200	Flanking Active TSS	Fetal Brain Male	brain
43	chr7:127223800-127225200	Flanking Active TSS	Pancreas	Pancrea
44	chr7:127223800-127225200	Flanking Active TSS	Right Ventricle	heart
45	chr7:127223800-127225400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr7:127223800-127225400	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr7:127223800-127225800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr7:127224000-127224600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:127224000-127224600	Enhancers	Aorta	Aorta
50	chr7:127224000-127224600	Flanking Active TSS	Fetal Brain Female	brain

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