Variant report

Variant	rs554992099
Chromosome Location	chr2:145191253-145191254
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	chr2:145184735..145186465-chr2:145190004..145192549,2	K562	blood:
2	chr2:145190065..145193052-chr2:145193360..145196551,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS 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	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv535956	chr2:145178224-145311097	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv535958	chr2:145190081-145285400	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
20	nsv964352	chr2:145190494-145193273	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
2	chr2:145157800-145206200	Weak transcription	Lung	lung
3	chr2:145159000-145193800	Weak transcription	Dnd41	blood
4	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:145183000-145194600	Weak transcription	Hela-S3	cervix
7	chr2:145184600-145193200	Genic enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:145185000-145196000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:145185600-145203000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:145187600-145191400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:145187600-145191800	Enhancers	NHDF-Ad	bronchial
12	chr2:145187600-145194600	Weak transcription	HUVEC	blood vessel
13	chr2:145187600-145198200	Weak transcription	Placenta	Placenta
14	chr2:145187600-145198200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:145187800-145192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:145188000-145191800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:145188000-145192000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:145188200-145191600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:145188200-145192000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:145188200-145192200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:145188200-145192400	Enhancers	Fetal Stomach	stomach
22	chr2:145188800-145191600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:145188800-145192000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:145188800-145192000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:145188800-145192000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:145188800-145192400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:145188800-145196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:145189000-145191600	Enhancers	HSMMtube	muscle
29	chr2:145189000-145193000	Genic enhancers	Fetal Lung	lung
30	chr2:145189000-145198400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:145189200-145191400	Enhancers	NHLF	lung
32	chr2:145189200-145192000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:145189200-145192000	Weak transcription	Ovary	ovary
34	chr2:145189200-145192400	Weak transcription	Left Ventricle	heart
35	chr2:145189200-145198400	Weak transcription	Right Ventricle	heart
36	chr2:145189200-145199600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:145189200-145206600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:145189400-145192000	Weak transcription	Right Atrium	heart
39	chr2:145189400-145192600	Weak transcription	Aorta	Aorta
40	chr2:145189400-145193200	Enhancers	Brain Angular Gyrus	brain
41	chr2:145189400-145193400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:145189400-145196400	Weak transcription	Psoas Muscle	Psoas
43	chr2:145189400-145198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:145189600-145191600	Genic enhancers	HSMM	muscle
45	chr2:145189600-145191800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:145189600-145192000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:145189600-145193600	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:145189800-145192000	Enhancers	Fetal Brain Female	brain
49	chr2:145190000-145191800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:145190000-145192000	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links