Variant report

Variant	rs557744840
Chromosome Location	chr5:68647497-68647498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68619412..68621979-chr5:68645837..68648113,2	K562	blood:
2	chr5:68527870..68529921-chr5:68647388..68650083,2	K562	blood:
3	chr5:68644789..68648896-chr5:68660361..68665573,5	K562	blood:

Variant related genes	Relation type
ENSG00000183323	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000085231	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv968187	chr5:68646127-68650097	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68628800-68649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:68631600-68648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:68636000-68648000	Weak transcription	HepG2	liver
4	chr5:68638000-68660200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:68639200-68663400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:68642200-68650400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:68643000-68664400	Weak transcription	Colonic Mucosa	Colon
8	chr5:68643200-68647800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:68643200-68663200	Weak transcription	Small Intestine	intestine
10	chr5:68643600-68655600	Weak transcription	Fetal Heart	heart
11	chr5:68643800-68648000	Weak transcription	HMEC	breast
12	chr5:68643800-68660400	Weak transcription	NHEK	skin
13	chr5:68643800-68660800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:68643800-68663600	Weak transcription	Brain Angular Gyrus	brain
15	chr5:68644000-68649600	Weak transcription	Hela-S3	cervix
16	chr5:68644000-68660600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:68644200-68648000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:68644200-68649600	Weak transcription	Spleen	Spleen
19	chr5:68644200-68652400	Weak transcription	Esophagus	oesophagus
20	chr5:68644200-68660200	Weak transcription	HSMMtube	muscle
21	chr5:68644400-68649000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:68644400-68650600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:68644600-68648200	Weak transcription	Brain Substantia Nigra	brain
24	chr5:68644800-68658200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:68644800-68660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:68645200-68660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:68645600-68647600	Strong transcription	Fetal Intestine Small	intestine
28	chr5:68645600-68652200	Strong transcription	Adipose Nuclei	Adipose
29	chr5:68645600-68658400	Weak transcription	Gastric	stomach
30	chr5:68645800-68647600	Strong transcription	Fetal Stomach	stomach
31	chr5:68645800-68648200	Strong transcription	Brain Anterior Caudate	brain
32	chr5:68645800-68648600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:68645800-68648800	Strong transcription	Fetal Brain Female	brain
34	chr5:68645800-68649200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:68645800-68650800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr5:68645800-68651200	Strong transcription	Placenta	Placenta
37	chr5:68645800-68651400	Strong transcription	Fetal Intestine Large	intestine
38	chr5:68645800-68651600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr5:68645800-68651600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:68645800-68652000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:68645800-68652200	Strong transcription	Osteobl	bone
42	chr5:68645800-68652800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:68645800-68653000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:68645800-68653000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:68645800-68653000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:68645800-68653000	Strong transcription	Liver	Liver
47	chr5:68645800-68653200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:68645800-68653200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:68645800-68653200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:68645800-68653200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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