Variant report

Variant	rs112291805
Chromosome Location	chr7:127670789-127670790
allele	A/T
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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:127663200-127671200	Weak transcription	NHLF	lung
4	chr7:127663200-127671400	Weak transcription	NHDF-Ad	bronchial
5	chr7:127663600-127670800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:127666000-127670800	Weak transcription	HMEC	breast
7	chr7:127666000-127670800	Weak transcription	Osteobl	bone
8	chr7:127666200-127672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:127666800-127670800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:127668200-127670800	Weak transcription	HSMMtube	muscle
11	chr7:127668200-127672200	Weak transcription	Fetal Heart	heart
12	chr7:127668600-127670800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:127668800-127671000	ZNF genes & repeats	K562	blood
14	chr7:127669000-127670800	Strong transcription	HepG2	liver
15	chr7:127669400-127671200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:127669400-127671400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
18	chr7:127669600-127670800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr7:127669600-127671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:127669600-127671200	Enhancers	Liver	Liver
21	chr7:127669600-127673200	Active TSS	Brain Cingulate Gyrus	brain
22	chr7:127669600-127718200	Weak transcription	A549	lung
23	chr7:127669800-127670800	Weak transcription	Aorta	Aorta
24	chr7:127669800-127671200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:127670000-127670800	Weak transcription	Primary T cells from cord blood	blood
26	chr7:127670000-127670800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr7:127670000-127670800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:127670000-127670800	Weak transcription	Pancreas	Pancrea
29	chr7:127670000-127671200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr7:127670000-127673000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:127670000-127673200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:127670200-127670800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr7:127670200-127670800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:127670200-127670800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr7:127670200-127670800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:127670200-127670800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:127670200-127670800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:127670200-127670800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:127670200-127670800	Transcr. at gene 5' and 3'	HSMM	muscle
40	chr7:127670200-127671000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:127670200-127671000	Enhancers	Ovary	ovary
42	chr7:127670200-127671000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr7:127670200-127673000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:127670400-127670800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:127670400-127670800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:127670400-127670800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:127670400-127670800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr7:127670400-127670800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr7:127670400-127670800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:127670400-127670800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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