Variant report

Variant	rs571997567
Chromosome Location	chr4:78739021-78739022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78738764..78744926-chr4:78780904..78785516,9	MCF-7	breast:
2	chr4:78734703..78743448-chr4:78779372..78785561,20	K562	blood:
3	chr4:78738995..78744410-chr4:78782336..78785612,12	K562	blood:
4	chr4:78731203..78732890-chr4:78737622..78739382,2	K562	blood:

Variant related genes	Relation type
ENSG00000169288	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	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv594700	chr4:78738089-78740601	Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 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	chr4:78722600-78739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:78736600-78739200	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr4:78737000-78742400	Active TSS	Thymus	Thymus
4	chr4:78738400-78739200	Active TSS	HepG2	liver
5	chr4:78738400-78739400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr4:78738600-78739200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:78738600-78739200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr4:78738600-78739200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:78738600-78739200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr4:78738600-78739200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr4:78738600-78739200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr4:78738600-78739200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:78738600-78739200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:78738600-78739200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr4:78738600-78739200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr4:78738600-78739200	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr4:78738600-78739200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr4:78738600-78739200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr4:78738600-78739200	Flanking Active TSS	NHDF-Ad	bronchial
20	chr4:78738600-78739200	Flanking Active TSS	NHEK	skin
21	chr4:78738600-78739400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:78738600-78739400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr4:78738600-78739400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:78738600-78739400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:78738600-78739400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr4:78738600-78739400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr4:78738600-78739400	Flanking Active TSS	Liver	Liver
28	chr4:78738600-78739400	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr4:78738600-78739400	Flanking Active TSS	Fetal Kidney	kidney
30	chr4:78738600-78739400	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr4:78738600-78739400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr4:78738600-78739400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr4:78738600-78739400	Flanking Active TSS	Dnd41	blood
34	chr4:78738600-78739400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr4:78738600-78739400	Flanking Active TSS	Osteobl	bone
36	chr4:78738600-78739600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr4:78738600-78739600	Flanking Active TSS	HUVEC	blood vessel
38	chr4:78738600-78739800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr4:78738600-78742000	Active TSS	Primary T cells fromperipheralblood	blood
40	chr4:78738600-78742000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:78738600-78742200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:78738600-78742200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:78738600-78742200	Active TSS	Fetal Intestine Small	intestine
44	chr4:78738600-78742200	Active TSS	Psoas Muscle	Psoas
45	chr4:78738600-78742200	Active TSS	NHLF	lung
46	chr4:78738600-78742600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr4:78738600-78742600	Active TSS	Right Atrium	heart
48	chr4:78738800-78739200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:78738800-78739200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr4:78738800-78739200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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