Variant report

Variant	rs575214811
Chromosome Location	chr5:68403349-68403350
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68388225..68391847-chr5:68400422..68403677,3	MCF-7	breast:
2	chr5:68402335..68404943-chr5:68424563..68427049,2	K562	blood:
3	chr5:68394864..68397048-chr5:68401666..68403726,2	MCF-7	breast:
4	chr5:68402227..68404179-chr5:68627103..68628743,2	MCF-7	breast:
5	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:

Variant related genes	Relation type
ENSG00000183323	Chromatin interaction
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:68390600-68405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68390800-68405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:68391200-68405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:68391200-68405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:68391200-68405600	Weak transcription	Psoas Muscle	Psoas
7	chr5:68391400-68415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:68391400-68428800	Weak transcription	Stomach Mucosa	stomach
9	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:68392200-68427000	Weak transcription	Fetal Heart	heart
11	chr5:68394200-68405200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:68395000-68419400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:68395000-68428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:68395200-68403800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:68395200-68405800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:68395400-68413200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr5:68395600-68406400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:68396200-68406200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:68396400-68405600	Weak transcription	Aorta	Aorta
20	chr5:68397400-68406400	Strong transcription	Fetal Intestine Large	intestine
21	chr5:68397400-68425000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:68397400-68426400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:68397600-68425000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:68397800-68406800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:68398000-68404800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:68398600-68427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:68398800-68403800	Strong transcription	Dnd41	blood
28	chr5:68398800-68404200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:68398800-68404600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:68398800-68404800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:68398800-68413400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr5:68398800-68426000	Strong transcription	Adipose Nuclei	Adipose
33	chr5:68399000-68403400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:68399000-68405600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:68399000-68405600	Strong transcription	Liver	Liver
36	chr5:68399000-68406000	Strong transcription	Brain Germinal Matrix	brain
37	chr5:68399000-68406200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:68399000-68406200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:68399000-68406200	Strong transcription	HSMM	muscle
40	chr5:68399000-68406400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:68399000-68406600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:68399000-68406800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:68399000-68406800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:68399000-68406800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:68399000-68408000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:68399000-68421400	Strong transcription	Osteobl	bone
47	chr5:68399000-68422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:68399000-68424600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:68399000-68425600	Strong transcription	Fetal Thymus	thymus
50	chr5:68399000-68428200	Strong transcription	Placenta	Placenta

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