Variant report

Variant	rs386796041
Chromosome Location	chr17:19978017-19978018
allele	CTG/TTA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19977490..19979005-chr17:19979596..19981343,2	K562	blood:
2	chr17:19977490..19979191-chr17:19979596..19981343,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv907872	chr17:19945841-19996140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1056224	chr17:19946604-19993026	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv543258	chr17:19946604-19993026	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1066594	chr17:19947874-19986671	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv543259	chr17:19947874-19986671	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv2762522	chr17:19976462-19996429	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19975400-19978800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr17:19975800-19978200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:19976000-19978200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr17:19976000-19978200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:19976200-19978200	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr17:19976200-19988000	Weak transcription	Gastric	stomach
7	chr17:19976200-19989400	Weak transcription	Lung	lung
8	chr17:19976400-19978200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr17:19976400-19978200	Flanking Active TSS	GM12878-XiMat	blood
10	chr17:19976600-19978200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr17:19976600-19978200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr17:19976600-19978200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr17:19976600-19978200	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr17:19976800-19978800	Active TSS	Brain Hippocampus Middle	brain
15	chr17:19976800-19979000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:19977000-19978200	Active TSS	Aorta	Aorta
17	chr17:19977000-19978200	Active TSS	Brain Cingulate Gyrus	brain
18	chr17:19977000-19978200	Active TSS	Brain Substantia Nigra	brain
19	chr17:19977000-19978200	Active TSS	Left Ventricle	heart
20	chr17:19977000-19978200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr17:19977000-19978400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:19977200-19979800	Weak transcription	A549	lung
23	chr17:19977400-19978200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr17:19977600-19978200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:19977600-19978200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:19977600-19978200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
27	chr17:19977600-19978400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr17:19977600-19978800	Enhancers	Ovary	ovary
29	chr17:19977600-19989600	Weak transcription	K562	blood
30	chr17:19977800-19978200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:19977800-19978200	Enhancers	Primary B cells from peripheral blood	blood
32	chr17:19977800-19978400	Weak transcription	Fetal Thymus	thymus
33	chr17:19977800-19979000	Enhancers	Primary B cells from cord blood	blood
34	chr17:19977800-19980000	Weak transcription	Osteobl	bone
35	chr17:19977800-19980200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:19977800-19980200	Weak transcription	NHLF	lung
37	chr17:19977800-19983000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr17:19978000-19978200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:19978000-19978200	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr17:19978000-19978200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr17:19978000-19978400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:19978000-19978600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr17:19978000-19979800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:19978000-19980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:19978000-19980000	Weak transcription	Brain Anterior Caudate	brain
46	chr17:19978000-19980000	Weak transcription	NHDF-Ad	bronchial
47	chr17:19978000-19984000	Weak transcription	Brain Angular Gyrus	brain
48	chr17:19978000-19988200	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links