Variant report

Variant	rs373719712
Chromosome Location	chr1:209936139-209936140
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	chr1:209935010..209937588-chr1:209955355..209957792,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv4343	chr1:209929932-209974877	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3453470	chr1:209935214-209936154	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	esv3517539	chr1:209935246-209936157	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
9	esv3527314	chr1:209935990-209937997	Strong transcription Genic enhancers Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	esv3527315	chr1:209935990-209937997	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209921800-209940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209921800-209942000	Weak transcription	Pancreas	Pancrea
3	chr1:209930800-209938800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:209931000-209941800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:209931000-209942000	Weak transcription	Esophagus	oesophagus
6	chr1:209931000-209943200	Weak transcription	Lung	lung
7	chr1:209931000-209943600	Weak transcription	Gastric	stomach
8	chr1:209931800-209940600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:209932000-209936800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:209932200-209941200	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:209932200-209941400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:209932200-209941800	Weak transcription	Colonic Mucosa	Colon
13	chr1:209932200-209942000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:209932600-209937800	Strong transcription	Dnd41	blood
15	chr1:209932600-209940000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:209932800-209938000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:209932800-209939400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:209933000-209937800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:209933000-209940000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:209933000-209940800	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr1:209933200-209936200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:209933200-209939400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:209933200-209939400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:209933400-209939400	Strong transcription	Thymus	Thymus
25	chr1:209933400-209940600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:209933600-209937800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:209933600-209940800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:209933800-209938000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:209933800-209939200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:209933800-209941600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:209934000-209941600	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:209934400-209937800	Genic enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:209934600-209941600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:209934800-209937800	Strong transcription	GM12878-XiMat	blood
35	chr1:209934800-209939200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:209934800-209940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:209934800-209941800	Weak transcription	Right Ventricle	heart
38	chr1:209934800-209942000	Weak transcription	Brain Substantia Nigra	brain
39	chr1:209934800-209942000	Weak transcription	Right Atrium	heart
40	chr1:209935000-209940600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:209935200-209937800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:209935200-209938200	Strong transcription	Primary B cells from cord blood	blood
43	chr1:209935200-209940600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr1:209935400-209937000	Strong transcription	Spleen	Spleen
45	chr1:209935400-209937800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:209935400-209938800	Genic enhancers	Primary T cells from cord blood	blood
47	chr1:209935400-209939200	Strong transcription	Fetal Thymus	thymus
48	chr1:209935600-209936600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:209935800-209939400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:209936000-209939200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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