Variant report

Variant	rs542141286
Chromosome Location	chr2:145180125-145180126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145171639..145174314-chr2:145179683..145182397,2	K562	blood:
2	chr2:145179160..145181399-chr2:145182530..145184937,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv875261	chr2:145093066-145184666	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:145157200-145184200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
4	chr2:145157800-145206200	Weak transcription	Lung	lung
5	chr2:145158200-145187200	Weak transcription	Aorta	Aorta
6	chr2:145158400-145184400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:145159000-145193800	Weak transcription	Dnd41	blood
8	chr2:145160000-145184000	Weak transcription	HUVEC	blood vessel
9	chr2:145160200-145182400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:145161600-145183800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:145161800-145187200	Weak transcription	Left Ventricle	heart
12	chr2:145161800-145188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:145162600-145184200	Weak transcription	NH-A	brain
14	chr2:145162600-145188000	Weak transcription	Right Atrium	heart
15	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:145164400-145184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:145164400-145184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:145167000-145182000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:145167000-145182400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:145170400-145182200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:145170400-145182400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:145171800-145180400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:145172000-145182200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:145172000-145185000	Weak transcription	Small Intestine	intestine
25	chr2:145172200-145181600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:145172200-145184800	Weak transcription	Right Ventricle	heart
27	chr2:145172200-145187200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:145172200-145187200	Weak transcription	Psoas Muscle	Psoas
29	chr2:145172200-145187400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:145172400-145182600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:145173000-145182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:145173200-145180600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:145173200-145182800	Strong transcription	Fetal Lung	lung
34	chr2:145173200-145183600	Strong transcription	HSMM	muscle
35	chr2:145173600-145182600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:145174400-145187200	Strong transcription	K562	blood
37	chr2:145175000-145180200	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:145175200-145181600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:145175200-145184200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:145175400-145184000	Weak transcription	Fetal Kidney	kidney
41	chr2:145176000-145184200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:145176200-145180200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:145176200-145182600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:145176400-145187400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:145176800-145180600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:145176800-145183000	Strong transcription	Adipose Nuclei	Adipose
47	chr2:145177000-145182400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr2:145177400-145180800	Strong transcription	Primary B cells from cord blood	blood
49	chr2:145177400-145182600	Strong transcription	Placenta	Placenta
50	chr2:145177600-145183000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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