Variant report

Variant	rs17675580
Chromosome Location	chr5:127428080-127428081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127427255..127429514-chr5:127437565..127440118,2	MCF-7	breast:
2	chr5:127425561..127430012-chr5:127430548..127434724,5	K562	blood:

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	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1825644	chr5:127427533-127450581	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127420800-127429600	Weak transcription	Aorta	Aorta
2	chr5:127421000-127428200	Weak transcription	HSMM	muscle
3	chr5:127421000-127429600	Weak transcription	Gastric	stomach
4	chr5:127421000-127431600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:127421200-127431400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:127421400-127429400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:127421400-127436400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:127421400-127450200	Weak transcription	Fetal Thymus	thymus
9	chr5:127421600-127429000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:127421600-127429800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:127421600-127432400	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:127421600-127432400	Weak transcription	NHDF-Ad	bronchial
13	chr5:127421600-127432600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:127422000-127433200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:127422000-127434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:127422200-127428800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:127422400-127431400	Weak transcription	HMEC	breast
19	chr5:127422800-127428800	Weak transcription	Primary T cells from cord blood	blood
20	chr5:127422800-127431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:127423000-127428800	Weak transcription	Stomach Mucosa	stomach
22	chr5:127423000-127436600	Weak transcription	HSMMtube	muscle
23	chr5:127423400-127429400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:127423600-127428800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:127423600-127431200	Weak transcription	A549	lung
26	chr5:127423600-127432200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:127423600-127436400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:127423600-127444800	Weak transcription	Fetal Stomach	stomach
29	chr5:127423600-127494000	Weak transcription	K562	blood
30	chr5:127423800-127429200	Weak transcription	Dnd41	blood
31	chr5:127425200-127428800	Weak transcription	Fetal Intestine Small	intestine
32	chr5:127425800-127428800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:127425800-127445000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr5:127426400-127428200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:127426400-127430600	Strong transcription	Primary B cells from cord blood	blood
36	chr5:127426400-127431600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:127426800-127433400	Weak transcription	Small Intestine	intestine
38	chr5:127427000-127428200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:127427000-127428800	Weak transcription	Brain Substantia Nigra	brain
40	chr5:127427000-127429400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:127427000-127429600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:127427200-127428600	Active TSS	Duodenum Mucosa	Duodenum
43	chr5:127427400-127428800	Weak transcription	GM12878-XiMat	blood
44	chr5:127427400-127429000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:127427400-127430200	Enhancers	Psoas Muscle	Psoas
46	chr5:127427400-127432400	Weak transcription	Fetal Intestine Large	intestine
47	chr5:127427600-127428800	Enhancers	HUVEC	blood vessel
48	chr5:127427800-127428200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:127427800-127428200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:127427800-127429200	Enhancers	Left Ventricle	heart

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