Variant report

Variant	rs13003631
Chromosome Location	chr2:145155414-145155415
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	chr2:145155007..145158693-chr2:145159329..145163319,5	K562	blood:
2	chr2:145150724..145153101-chr2:145154012..145156643,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12996983	0.83[EUR][1000 genomes]
rs13009259	0.87[ASN][1000 genomes]
rs34227912	0.84[EUR][1000 genomes]
rs35015447	0.93[ASN][1000 genomes]
rs35213774	0.98[ASN][1000 genomes]
rs35783446	0.93[ASN][1000 genomes]
rs68066623	1.00[ASN][1000 genomes]

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	nsv1004937	chr2:145079535-145159021	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145139600-145155800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:145139600-145159800	Weak transcription	Small Intestine	intestine
3	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:145141000-145159600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:145141400-145160000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:145141400-145173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:145142000-145156400	Weak transcription	Dnd41	blood
8	chr2:145142000-145159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:145143400-145163000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:145143400-145163600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:145143600-145159000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:145144400-145163800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:145145200-145163800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:145145600-145155800	Weak transcription	Right Ventricle	heart
15	chr2:145145800-145159000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:145145800-145176000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr2:145146200-145156400	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:145146200-145158000	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:145146200-145158800	Strong transcription	HSMM	muscle
20	chr2:145146200-145159600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:145146200-145160400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:145146200-145162800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:145146200-145162800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:145146200-145167400	Strong transcription	Primary B cells from cord blood	blood
25	chr2:145146200-145173200	Strong transcription	K562	blood
26	chr2:145146400-145162800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:145146800-145159000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr2:145147400-145159400	Strong transcription	Fetal Lung	lung
29	chr2:145147400-145159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:145147400-145161400	Strong transcription	Placenta	Placenta
31	chr2:145147400-145167600	Weak transcription	Thymus	Thymus
32	chr2:145147400-145170400	Weak transcription	Fetal Thymus	thymus
33	chr2:145147600-145156800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:145147600-145164000	Weak transcription	Gastric	stomach
35	chr2:145147600-145164400	Weak transcription	Pancreas	Pancrea
36	chr2:145147600-145169200	Weak transcription	Esophagus	oesophagus
37	chr2:145147800-145155800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:145147800-145156000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:145147800-145162400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:145148600-145158000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:145148800-145162200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:145149000-145158200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:145149000-145162200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:145149000-145162600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:145149000-145162800	Strong transcription	Osteobl	bone
46	chr2:145149200-145156800	Weak transcription	Psoas Muscle	Psoas
47	chr2:145149400-145158400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:145149400-145159600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:145149400-145159800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:145150800-145160000	Strong transcription	NH-A	brain

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