Variant report

Variant	rs117498244
Chromosome Location	chr7:66112195-66112196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66104853..66106959-chr7:66112169..66114610,2	MCF-7	breast:
2	chr7:66102739..66106974-chr7:66106983..66113666,6	K562	blood:
3	chr7:66110828..66113551-chr7:66145936..66148699,2	K562	blood:
4	chr7:66108448..66114561-chr7:66117849..66121082,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154710	Chromatin interaction
ENSG00000226824	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv970869	chr7:66111792-66114758	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66095000-66115200	Weak transcription	HMEC	breast
2	chr7:66095200-66118400	Weak transcription	Fetal Heart	heart
3	chr7:66095200-66118400	Weak transcription	HUVEC	blood vessel
4	chr7:66096000-66113800	Strong transcription	Fetal Stomach	stomach
5	chr7:66097000-66113400	Strong transcription	Fetal Brain Female	brain
6	chr7:66097800-66118200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:66098000-66112800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr7:66098000-66113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:66098000-66113400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:66098200-66112400	Strong transcription	Fetal Muscle Leg	muscle
11	chr7:66098400-66112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:66098400-66113200	Strong transcription	Spleen	Spleen
13	chr7:66099800-66113400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:66101400-66113400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr7:66101800-66113400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:66102200-66112400	Strong transcription	Lung	lung
17	chr7:66102200-66113600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:66102200-66113800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:66102400-66112400	Strong transcription	Placenta	Placenta
20	chr7:66102400-66113400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:66102400-66113400	Strong transcription	Brain Germinal Matrix	brain
22	chr7:66102600-66112400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:66102600-66112400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:66102800-66113200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:66102800-66113600	Strong transcription	Thymus	Thymus
26	chr7:66103000-66112600	Strong transcription	Osteobl	bone
27	chr7:66103200-66112400	Strong transcription	Aorta	Aorta
28	chr7:66104000-66117600	Weak transcription	Hela-S3	cervix
29	chr7:66104200-66115000	Weak transcription	NHEK	skin
30	chr7:66104600-66118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:66104800-66118200	Weak transcription	Pancreas	Pancrea
32	chr7:66104800-66118400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:66105000-66118600	Weak transcription	Esophagus	oesophagus
34	chr7:66105000-66119000	Weak transcription	Gastric	stomach
35	chr7:66105200-66118800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:66105600-66118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:66105800-66113400	Strong transcription	HSMM	muscle
38	chr7:66105800-66118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:66105800-66118400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:66106000-66118200	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:66106000-66118400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:66106200-66112400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:66106600-66118400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:66106800-66114000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:66106800-66118200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:66106800-66118600	Weak transcription	Fetal Kidney	kidney
47	chr7:66107000-66112400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:66107000-66112600	Strong transcription	Fetal Intestine Small	intestine
49	chr7:66107000-66118400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:66107200-66118200	Weak transcription	H9 Cell Line	embryonic stem cell

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