Variant report

Variant	rs537309818
Chromosome Location	chr7:140371968-140371969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr7:140371834-140372184	U2OS	brain:	n/a	n/a
2	POLR2A	chr7:140371968-140372196	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr7:140371945-140372228	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
2	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:
3	chr7:140371233..140372859-chr7:140417535..140420248,2	MCF-7	breast:
4	chr7:140371560..140374067-chr7:140396511..140398663,2	K562	blood:
5	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
6	chr7:140358444..140360553-chr7:140370671..140372780,2	MCF-7	breast:
7	chr7:140366280..140367939-chr7:140371289..140372844,2	MCF-7	breast:
8	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:

No data

Variant related genes	Relation type
ADCK2	TF binding region
ENSG00000133597	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3373922	chr7:140371933-140374031	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140365800-140372000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:140369600-140372000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:140370400-140372000	Weak transcription	A549	lung
4	chr7:140370600-140372200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:140370800-140372000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:140370800-140372000	Weak transcription	K562	blood
7	chr7:140371000-140372400	Weak transcription	NHLF	lung
8	chr7:140371600-140372000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr7:140371600-140372000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:140371600-140372200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:140371600-140372200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:140371600-140372200	Enhancers	Spleen	Spleen
13	chr7:140371600-140372200	Active TSS	HepG2	liver
14	chr7:140371600-140372400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:140371800-140372000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:140371800-140372000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:140371800-140372000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:140371800-140372000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:140371800-140372000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:140371800-140372000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:140371800-140372000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:140371800-140372000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:140371800-140372000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:140371800-140372000	Enhancers	Brain Anterior Caudate	brain
25	chr7:140371800-140372000	Enhancers	Brain Substantia Nigra	brain
26	chr7:140371800-140372000	Enhancers	Fetal Kidney	kidney
27	chr7:140371800-140372000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr7:140371800-140372000	Enhancers	Hela-S3	cervix
29	chr7:140371800-140372200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:140371800-140372200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:140371800-140372200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:140371800-140372200	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:140371800-140372200	Enhancers	Placenta	Placenta
34	chr7:140371800-140372200	Enhancers	Dnd41	blood
35	chr7:140371800-140372400	Enhancers	Fetal Heart	heart
36	chr7:140371800-140372400	Weak transcription	Ovary	ovary
37	chr7:140371800-140372400	Enhancers	Pancreas	Pancrea
38	chr7:140371800-140372400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr7:140371800-140372400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr7:140371800-140372400	Enhancers	Stomach Mucosa	stomach

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