Variant report

Variant	rs551319309
Chromosome Location	chr5:115209546-115209547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115204790..115207353-chr5:115207860..115210489,2	MCF-7	breast:
2	chr5:115197705..115199807-chr5:115209028..115210592,2	MCF-7	breast:
3	chr5:115206874..115208478-chr5:115208697..115211517,2	MCF-7	breast:
4	chr5:115204352..115206713-chr5:115207529..115209767,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv981040	chr5:115205066-115211378	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv3401617	chr5:115205732-115238678	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3368162	chr5:115205767-115230833	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1027418	chr5:115206256-115446861	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv515611	chr5:115208843-115428381	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115185600-115218600	Weak transcription	Lung	lung
2	chr5:115189800-115218600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:115191000-115223000	Weak transcription	Right Ventricle	heart
5	chr5:115193200-115239000	Weak transcription	Gastric	stomach
6	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:115194000-115211000	Weak transcription	HepG2	liver
8	chr5:115194400-115218000	Weak transcription	Fetal Intestine Small	intestine
9	chr5:115194400-115220800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
11	chr5:115195600-115214600	Weak transcription	HSMMtube	muscle
12	chr5:115196000-115211200	Weak transcription	Psoas Muscle	Psoas
13	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
14	chr5:115200400-115218200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:115200600-115213800	Weak transcription	Fetal Heart	heart
16	chr5:115200800-115221000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:115201000-115218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:115202000-115218000	Weak transcription	Fetal Stomach	stomach
19	chr5:115203000-115218000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:115203400-115233400	Weak transcription	Fetal Brain Male	brain
21	chr5:115203800-115213000	Weak transcription	NHEK	skin
22	chr5:115204200-115213000	Weak transcription	Brain Germinal Matrix	brain
23	chr5:115204800-115211600	Weak transcription	Brain Angular Gyrus	brain
24	chr5:115205000-115212400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:115205000-115218200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:115205000-115221600	Weak transcription	Spleen	Spleen
27	chr5:115205200-115209600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:115205200-115213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:115205400-115220600	Weak transcription	Stomach Mucosa	stomach
30	chr5:115205600-115254200	Weak transcription	Small Intestine	intestine
31	chr5:115205800-115221400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:115206400-115218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:115206800-115218200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:115207000-115218000	Weak transcription	Placenta	Placenta
35	chr5:115207000-115218200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:115207200-115211000	Weak transcription	Dnd41	blood
37	chr5:115207200-115213600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr5:115207200-115215200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:115207200-115222600	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:115207600-115212400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:115207600-115212800	Weak transcription	Fetal Lung	lung
42	chr5:115207600-115218400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:115207600-115220800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:115207600-115233600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:115207600-115238400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:115207600-115239200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:115207600-115244600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:115207600-115253800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:115207600-115254600	Weak transcription	Fetal Kidney	kidney
50	chr5:115207800-115210000	Weak transcription	Brain Cingulate Gyrus	brain

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