Variant report

Variant	rs68066623
Chromosome Location	chr2:145159105-145159106
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145158901..145161534-chr2:145162816..145165528,2	K562	blood:
2	chr2:145115743..145118583-chr2:145158597..145161342,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13003631	1.00[ASN][1000 genomes]
rs13009259	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13016542	0.86[EUR][1000 genomes]
rs35015447	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35213774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35783446	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145139600-145159800	Weak transcription	Small Intestine	intestine
2	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:145141000-145159600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:145141400-145160000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:145141400-145173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:145142000-145159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:145143400-145163000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:145143400-145163600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:145144400-145163800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:145145200-145163800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:145145800-145176000	Strong transcription	Primary hematopoietic stem cells	blood
12	chr2:145146200-145159600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:145146200-145160400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:145146200-145162800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:145146200-145162800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:145146200-145167400	Strong transcription	Primary B cells from cord blood	blood
17	chr2:145146200-145173200	Strong transcription	K562	blood
18	chr2:145146400-145162800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:145147400-145159400	Strong transcription	Fetal Lung	lung
20	chr2:145147400-145159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:145147400-145161400	Strong transcription	Placenta	Placenta
22	chr2:145147400-145167600	Weak transcription	Thymus	Thymus
23	chr2:145147400-145170400	Weak transcription	Fetal Thymus	thymus
24	chr2:145147600-145164000	Weak transcription	Gastric	stomach
25	chr2:145147600-145164400	Weak transcription	Pancreas	Pancrea
26	chr2:145147600-145169200	Weak transcription	Esophagus	oesophagus
27	chr2:145147800-145162400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:145148800-145162200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:145149000-145162200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:145149000-145162600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:145149000-145162800	Strong transcription	Osteobl	bone
32	chr2:145149400-145159600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:145149400-145159800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:145150800-145160000	Strong transcription	NH-A	brain
35	chr2:145152000-145162000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:145152200-145159400	Strong transcription	NHDF-Ad	bronchial
37	chr2:145152200-145159600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:145154200-145161400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:145154200-145161400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:145154200-145163000	Strong transcription	Adipose Nuclei	Adipose
41	chr2:145154200-145164200	Weak transcription	Colonic Mucosa	Colon
42	chr2:145154800-145159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:145155000-145159800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:145155000-145160200	Strong transcription	Left Ventricle	heart
45	chr2:145155200-145162200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:145155400-145159600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:145155600-145164000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:145155800-145159200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:145155800-145159200	Strong transcription	NHLF	lung
50	chr2:145156000-145160600	Strong transcription	Brain Germinal Matrix	brain

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