Variant report

Variant	rs138894105
Chromosome Location	chr5:115206933-115206934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71323238..71324801-chr5:115205748..115207250,2	K562	blood:
2	chr5:115175801..115178780-chr5:115205651..115208608,2	K562	blood:
3	chr5:115206874..115208478-chr5:115208697..115211517,2	MCF-7	breast:
4	chr5:115177088..115179006-chr5:115205990..115207526,2	MCF-7	breast:
5	chr5:115204790..115207353-chr5:115207860..115210489,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000180917	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	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

No data

Chromatin state (count:113 , 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	chr5:115192400-115207600	Weak transcription	Pancreas	Pancrea
6	chr5:115193200-115207400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:115193200-115239000	Weak transcription	Gastric	stomach
8	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:115194000-115211000	Weak transcription	HepG2	liver
10	chr5:115194200-115209000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:115194400-115218000	Weak transcription	Fetal Intestine Small	intestine
12	chr5:115194400-115220800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:115195400-115209000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
15	chr5:115195600-115208600	Weak transcription	Osteobl	bone
16	chr5:115195600-115214600	Weak transcription	HSMMtube	muscle
17	chr5:115196000-115211200	Weak transcription	Psoas Muscle	Psoas
18	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
19	chr5:115200200-115209000	Weak transcription	K562	blood
20	chr5:115200400-115208600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:115200400-115218200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:115200600-115209000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:115200600-115209000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:115200600-115213800	Weak transcription	Fetal Heart	heart
25	chr5:115200800-115209000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:115200800-115221000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:115201000-115218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:115202000-115209000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:115202000-115218000	Weak transcription	Fetal Stomach	stomach
30	chr5:115203000-115218000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:115203200-115207200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:115203400-115233400	Weak transcription	Fetal Brain Male	brain
33	chr5:115203600-115208200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr5:115203800-115208400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:115203800-115213000	Weak transcription	NHEK	skin
36	chr5:115204000-115207200	Weak transcription	Thymus	Thymus
37	chr5:115204200-115213000	Weak transcription	Brain Germinal Matrix	brain
38	chr5:115204600-115207000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:115204600-115207200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:115204800-115208400	Strong transcription	GM12878-XiMat	blood
41	chr5:115204800-115211600	Weak transcription	Brain Angular Gyrus	brain
42	chr5:115205000-115207200	Strong transcription	Dnd41	blood
43	chr5:115205000-115207600	Strong transcription	HSMM	muscle
44	chr5:115205000-115212400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:115205000-115218200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:115205000-115221600	Weak transcription	Spleen	Spleen
47	chr5:115205200-115207000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:115205200-115208000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:115205200-115208200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr5:115205200-115208400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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