Variant report

Variant	rs547397612
Chromosome Location	chr7:116553247-116553248
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:116552607-116553320	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:116551278..116554043-chr7:116558237..116559780,2	K562	blood:
2	chr7:116546291..116549197-chr7:116550782..116553572,2	K562	blood:
3	chr7:116548558..116551081-chr7:116553120..116555423,2	MCF-7	breast:

Variant related genes	Relation type
CAPZA2	TF binding region
ENSG00000252115	TF binding region
ENSG00000198898	Chromatin interaction
ENSG00000252115	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:116517200-116554600	Weak transcription	Esophagus	oesophagus
6	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
7	chr7:116525800-116554600	Weak transcription	Aorta	Aorta
8	chr7:116525800-116558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
10	chr7:116526600-116553600	Weak transcription	Right Ventricle	heart
11	chr7:116526800-116554600	Weak transcription	Gastric	stomach
12	chr7:116526800-116559400	Weak transcription	Stomach Mucosa	stomach
13	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:116532000-116559600	Strong transcription	HSMM	muscle
15	chr7:116538000-116559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:116538200-116562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:116538600-116554200	Weak transcription	Spleen	Spleen
18	chr7:116538600-116559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:116539400-116555000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:116540400-116559800	Strong transcription	Fetal Thymus	thymus
21	chr7:116543000-116559000	Strong transcription	HUVEC	blood vessel
22	chr7:116543000-116560800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:116543200-116559600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:116543200-116559600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:116543200-116562400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:116543400-116553400	Strong transcription	Primary B cells from cord blood	blood
27	chr7:116543600-116559200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:116543800-116561400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:116544000-116568600	Weak transcription	Fetal Brain Male	brain
30	chr7:116544200-116558600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:116544400-116570600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:116545600-116554600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:116546000-116556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:116546200-116559600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:116546200-116560600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:116546400-116559600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:116546400-116559600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:116546600-116559200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:116548400-116553600	Weak transcription	Fetal Intestine Small	intestine
40	chr7:116549000-116555400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:116549200-116559200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:116549800-116553800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:116549800-116553800	Strong transcription	A549	lung
44	chr7:116549800-116558200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:116549800-116558400	Strong transcription	HepG2	liver
46	chr7:116549800-116559000	Strong transcription	Placenta	Placenta
47	chr7:116549800-116559000	Strong transcription	Dnd41	blood
48	chr7:116549800-116559000	Strong transcription	K562	blood
49	chr7:116549800-116559200	Strong transcription	Osteobl	bone
50	chr7:116550000-116553400	Strong transcription	Adipose Nuclei	Adipose

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