Variant report

Variant	rs542990053
Chromosome Location	chr4:7807750-7807751
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7807226..7807954-chr4:7930533..7931051,2	K562	blood:
2	chr4:7773384..7775813-chr4:7806131..7807839,2	MCF-7	breast:
3	chr4:7807434..7808952-chr4:8000439..8002438,2	MCF-7	breast:
4	chr4:7803065..7804892-chr4:7807691..7809470,2	K562	blood:
5	chr4:7803065..7805141-chr4:7807691..7809396,2	K562	blood:
6	chr4:7806581..7808350-chr4:8014117..8016969,2	MCF-7	breast:
7	chr4:7806783..7809609-chr4:7939273..7941651,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228919	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1006642	chr4:7786980-7811291	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	esv2763337	chr4:7807183-7811303	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7784000-7821200	Weak transcription	Small Intestine	intestine
3	chr4:7787000-7829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:7791000-7829400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:7800600-7828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:7802000-7807800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:7802200-7819800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:7802400-7812400	Weak transcription	Spleen	Spleen
9	chr4:7802600-7808000	Weak transcription	Gastric	stomach
10	chr4:7802600-7809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:7802600-7810400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:7802800-7809400	Weak transcription	Esophagus	oesophagus
13	chr4:7803000-7808000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:7803000-7808600	Weak transcription	Aorta	Aorta
15	chr4:7803000-7812400	Weak transcription	Colonic Mucosa	Colon
16	chr4:7803800-7809200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:7803800-7810200	Enhancers	Fetal Heart	heart
18	chr4:7804000-7829200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:7804200-7808200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:7804200-7808200	Weak transcription	NHEK	skin
21	chr4:7804600-7809400	Genic enhancers	Osteobl	bone
22	chr4:7805200-7809600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:7805200-7822600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:7805400-7809600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:7805600-7809600	Enhancers	Colon Smooth Muscle	Colon
26	chr4:7805600-7809800	Enhancers	Brain Hippocampus Middle	brain
27	chr4:7805600-7810400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:7805600-7816400	Genic enhancers	Fetal Stomach	stomach
29	chr4:7805800-7809400	Enhancers	Fetal Muscle Trunk	muscle
30	chr4:7805800-7809600	Enhancers	Stomach Mucosa	stomach
31	chr4:7805800-7810600	Enhancers	Ovary	ovary
32	chr4:7806000-7808600	Enhancers	Fetal Lung	lung
33	chr4:7806000-7808600	Enhancers	Hela-S3	cervix
34	chr4:7806000-7808800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:7806000-7809000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:7806000-7809200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:7806000-7810000	Enhancers	Fetal Kidney	kidney
38	chr4:7806000-7810200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:7806000-7814000	Enhancers	Adipose Nuclei	Adipose
40	chr4:7806200-7808200	Enhancers	HMEC	breast
41	chr4:7806200-7808400	Enhancers	Fetal Brain Male	brain
42	chr4:7806200-7808800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:7806200-7809000	Genic enhancers	NH-A	brain
44	chr4:7806200-7809600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr4:7806200-7809800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:7806200-7810000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:7806200-7819200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:7806400-7808400	Enhancers	Pancreas	Pancrea
49	chr4:7806400-7808600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr4:7806400-7809400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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