Variant report

Variant	rs561127479
Chromosome Location	chr7:112031428-112031429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112030505..112033411-chr7:112090112..112091685,2	MCF-7	breast:
2	chr7:112031184..112032769-chr7:112035283..112037253,2	MCF-7	breast:
3	chr7:112029526..112032512-chr7:112089416..112091655,2	K562	blood:
4	chr7:111844038..111847203-chr7:112030805..112032804,3	MCF-7	breast:
5	chr7:112029372..112031621-chr7:112036798..112039526,2	MCF-7	breast:
6	chr7:112023462..112026199-chr7:112030712..112034136,5	MCF-7	breast:
7	chr7:111857821..111859574-chr7:112030551..112032739,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198839	Chromatin interaction
ENSG00000128512	Chromatin interaction
ENSG00000006652	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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	esv3325611	chr7:112030791-112032839	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112027000-112032000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:112030800-112031600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:112030800-112032200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:112030800-112032200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr7:112030800-112032200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:112030800-112032200	Active TSS	Hela-S3	cervix
7	chr7:112030800-112032400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:112030800-112032600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:112031000-112032000	Active TSS	Primary T cells fromperipheralblood	blood
10	chr7:112031000-112032000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:112031000-112032200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr7:112031000-112032200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:112031000-112032200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:112031000-112032200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:112031000-112032200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:112031000-112032200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:112031000-112032200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:112031000-112032200	Active TSS	Primary B cells from cord blood	blood
19	chr7:112031000-112032200	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr7:112031000-112032200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:112031000-112032200	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:112031000-112032200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:112031000-112032200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr7:112031000-112032200	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr7:112031000-112032200	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr7:112031000-112032200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:112031000-112032200	Active TSS	Brain Angular Gyrus	brain
28	chr7:112031000-112032200	Active TSS	Brain Anterior Caudate	brain
29	chr7:112031000-112032200	Active TSS	Brain Germinal Matrix	brain
30	chr7:112031000-112032200	Active TSS	Brain Hippocampus Middle	brain
31	chr7:112031000-112032200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:112031000-112032200	Active TSS	Duodenum Mucosa	Duodenum
33	chr7:112031000-112032200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr7:112031000-112032200	Active TSS	Fetal Muscle Leg	muscle
35	chr7:112031000-112032200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:112031000-112032200	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:112031000-112032200	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:112031000-112032200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr7:112031000-112032200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr7:112031000-112032200	Active TSS	GM12878-XiMat	blood
41	chr7:112031000-112032200	Active TSS	HMEC	breast
42	chr7:112031000-112032200	Active TSS	NH-A	brain
43	chr7:112031000-112032200	Active TSS	NHEK	skin
44	chr7:112031000-112032200	Active TSS	Osteobl	bone
45	chr7:112031000-112032400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:112031000-112032400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:112031000-112032400	Active TSS	Fetal Brain Female	brain
48	chr7:112031000-112032400	Active TSS	Fetal Lung	lung
49	chr7:112031000-112032400	Active TSS	Psoas Muscle	Psoas
50	chr7:112031000-112032400	Active TSS	Stomach Smooth Muscle	stomach

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