Variant report

Variant	rs549286961
Chromosome Location	chr7:127670814-127670815
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127670290..127672426-chr7:127847694..127849550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207705	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3422434	chr7:127670741-127674089	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3331798	chr7:127670766-127673564	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127663200-127671200	Weak transcription	NHLF	lung
3	chr7:127663200-127671400	Weak transcription	NHDF-Ad	bronchial
4	chr7:127666200-127672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:127668200-127672200	Weak transcription	Fetal Heart	heart
6	chr7:127668800-127671000	ZNF genes & repeats	K562	blood
7	chr7:127669400-127671200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:127669400-127671400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
10	chr7:127669600-127671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:127669600-127671200	Enhancers	Liver	Liver
12	chr7:127669600-127673200	Active TSS	Brain Cingulate Gyrus	brain
13	chr7:127669600-127718200	Weak transcription	A549	lung
14	chr7:127669800-127671200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:127670000-127671200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr7:127670000-127673000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:127670000-127673200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:127670200-127671000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:127670200-127671000	Enhancers	Ovary	ovary
20	chr7:127670200-127671000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr7:127670200-127673000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:127670400-127671000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:127670400-127671000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr7:127670400-127671000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
25	chr7:127670400-127671000	Flanking Active TSS	Left Ventricle	heart
26	chr7:127670400-127671200	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:127670400-127671200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:127670400-127671200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr7:127670400-127671200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr7:127670400-127671600	Flanking Active TSS	Right Ventricle	heart
31	chr7:127670400-127672000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr7:127670400-127672000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:127670400-127672000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:127670400-127673000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:127670400-127673000	Active TSS	Brain Substantia Nigra	brain
36	chr7:127670400-127673200	Active TSS	Fetal Brain Female	brain
37	chr7:127670400-127698800	Weak transcription	Dnd41	blood
38	chr7:127670600-127671000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:127670600-127671000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr7:127670600-127671000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr7:127670600-127671000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:127670600-127671000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:127670600-127671000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:127670600-127671000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:127670600-127671000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr7:127670600-127671000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr7:127670600-127671000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr7:127670600-127671000	Flanking Active TSS	Esophagus	oesophagus
49	chr7:127670600-127671000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr7:127670600-127671000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine

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