Variant report

Variant	rs553726719
Chromosome Location	chr7:140624245-140624246
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140572911..140575551-chr7:140622620..140624458,2	MCF-7	breast:
2	chr7:77325504..77326093-chr7:140624035..140624792,2	NB4	blood:
3	chr7:140532465..140534919-chr7:140622566..140624357,2	K562	blood:
4	chr7:140395267..140398426-chr7:140622802..140626309,6	K562	blood:
5	chr7:140621424..140625988-chr7:140712136..140716057,7	K562	blood:
6	chr7:140621424..140625828-chr7:140713150..140716057,6	K562	blood:
7	chr7:140395805..140398704-chr7:140623265..140626329,4	K562	blood:
8	chr7:140624233..140624974-chr9:33510596..33511369,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000090263	Chromatin interaction
ENSG00000226823	Chromatin interaction
ENSG00000214293	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000187257	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3422481	chr7:140623508-140626056	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140620200-140625400	Active TSS	GM12878-XiMat	blood
2	chr7:140620800-140625200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:140622000-140625400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:140622200-140625600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:140622600-140625200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:140622600-140625200	Active TSS	Fetal Intestine Large	intestine
7	chr7:140622600-140625400	Active TSS	Aorta	Aorta
8	chr7:140622600-140625400	Active TSS	Colonic Mucosa	Colon
9	chr7:140622600-140625400	Active TSS	Fetal Brain Female	brain
10	chr7:140622600-140625600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:140622800-140624800	Active TSS	HMEC	breast
12	chr7:140622800-140625200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:140622800-140625400	Active TSS	NHLF	lung
14	chr7:140622800-140625600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:140622800-140625600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:140622800-140625600	Active TSS	K562	blood
17	chr7:140623000-140625000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:140623000-140625200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:140623000-140625200	Active TSS	A549	lung
20	chr7:140623000-140625200	Active TSS	Hela-S3	cervix
21	chr7:140623000-140625400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:140623000-140625600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:140623000-140625600	Active TSS	Brain Anterior Caudate	brain
24	chr7:140623000-140625600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:140623200-140625000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:140623200-140625000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr7:140623200-140625200	Active TSS	Brain Hippocampus Middle	brain
28	chr7:140623200-140625200	Active TSS	Fetal Intestine Small	intestine
29	chr7:140623200-140625200	Active TSS	Stomach Smooth Muscle	stomach
30	chr7:140623200-140625400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr7:140623200-140625400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr7:140623200-140625400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:140623200-140625400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:140623200-140625400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:140623200-140625400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:140623200-140625400	Active TSS	Fetal Muscle Trunk	muscle
37	chr7:140623200-140625400	Active TSS	Placenta	Placenta
38	chr7:140623200-140625400	Active TSS	Fetal Stomach	stomach
39	chr7:140623200-140625400	Active TSS	Psoas Muscle	Psoas
40	chr7:140623200-140625400	Active TSS	Right Ventricle	heart
41	chr7:140623200-140625600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:140623200-140625600	Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:140623200-140625600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:140623200-140625600	Active TSS	NHDF-Ad	bronchial
45	chr7:140623400-140624400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:140623400-140624600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:140623400-140625000	Bivalent/Poised TSS	HepG2	liver
48	chr7:140623400-140625200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:140623400-140625200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:140623400-140625200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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