Variant report

Variant	rs571447491
Chromosome Location	chr7:127671054-127671055
allele	G/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:124 , 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	chr7:127669400-127671200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:127669400-127671400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
9	chr7:127669600-127671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:127669600-127671200	Enhancers	Liver	Liver
11	chr7:127669600-127673200	Active TSS	Brain Cingulate Gyrus	brain
12	chr7:127669600-127718200	Weak transcription	A549	lung
13	chr7:127669800-127671200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:127670000-127671200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr7:127670000-127673000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:127670000-127673200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:127670200-127673000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:127670400-127671200	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:127670400-127671200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:127670400-127671200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:127670400-127671200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr7:127670400-127671600	Flanking Active TSS	Right Ventricle	heart
23	chr7:127670400-127672000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:127670400-127672000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:127670400-127672000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:127670400-127673000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:127670400-127673000	Active TSS	Brain Substantia Nigra	brain
28	chr7:127670400-127673200	Active TSS	Fetal Brain Female	brain
29	chr7:127670400-127698800	Weak transcription	Dnd41	blood
30	chr7:127670600-127671200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:127670600-127671200	Enhancers	Small Intestine	intestine
32	chr7:127670600-127672200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr7:127670600-127672200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:127670600-127672200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr7:127670600-127672200	Active TSS	Fetal Kidney	kidney
36	chr7:127670600-127672600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr7:127670600-127673000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr7:127670600-127673200	Active TSS	Brain Anterior Caudate	brain
39	chr7:127670800-127671200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:127670800-127671200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:127670800-127671200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:127670800-127671200	Active TSS	Stomach Smooth Muscle	stomach
43	chr7:127670800-127671200	Bivalent/Poised TSS	Thymus	Thymus
44	chr7:127670800-127671200	Enhancers	HMEC	breast
45	chr7:127670800-127671800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:127670800-127672000	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr7:127670800-127672000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:127670800-127672000	Active TSS	Gastric	stomach
49	chr7:127670800-127672200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr7:127670800-127672400	Active TSS	Psoas Muscle	Psoas

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