Variant report

Variant	rs559400929
Chromosome Location	chr1:212545198-212545199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212544671..212547756-chr1:212550535..212553418,4	K562	blood:

Variant related genes	Relation type
ENSG00000065600	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv3372238	chr1:212544129-212549027	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
2	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:212504000-212548600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:212508200-212545800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:212523600-212550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:212524400-212554600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:212525600-212545600	Strong transcription	Primary T cells from cord blood	blood
9	chr1:212526800-212549200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:212526800-212550800	Weak transcription	HSMMtube	muscle
11	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
12	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
13	chr1:212529000-212550800	Weak transcription	NHLF	lung
14	chr1:212529400-212562400	Strong transcription	Dnd41	blood
15	chr1:212529800-212563200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:212530200-212552600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:212531600-212550000	Weak transcription	Pancreas	Pancrea
18	chr1:212531800-212550400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:212532000-212548600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:212532200-212550400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:212532400-212560200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:212533400-212557000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:212533800-212552800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:212534000-212558200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:212534000-212570200	Weak transcription	HSMM	muscle
26	chr1:212534400-212570600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:212534600-212560000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:212535000-212552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:212535000-212561400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:212535200-212560200	Weak transcription	Hela-S3	cervix
31	chr1:212536200-212550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:212536200-212550600	Weak transcription	Brain Angular Gyrus	brain
33	chr1:212536200-212561600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:212536600-212549400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:212536600-212552800	Weak transcription	HMEC	breast
36	chr1:212537800-212551600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:212538000-212546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:212538000-212571000	Weak transcription	NH-A	brain
39	chr1:212538200-212546400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:212538200-212550600	Weak transcription	Placenta	Placenta
41	chr1:212538200-212559600	Weak transcription	Right Atrium	heart
42	chr1:212538600-212548600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:212538600-212550000	Weak transcription	Colonic Mucosa	Colon
44	chr1:212538600-212550400	Weak transcription	Ovary	ovary
45	chr1:212538800-212546800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:212538800-212549400	Weak transcription	Gastric	stomach
47	chr1:212539400-212548600	Weak transcription	Esophagus	oesophagus
48	chr1:212539400-212549400	Weak transcription	Aorta	Aorta
49	chr1:212539600-212550800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:212540000-212549400	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links