Variant report

Variant	rs993765
Chromosome Location	chr2:145214761-145214762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145202502..145204314-chr2:145213044..145215998,2	K562	blood:
2	chr2:145197698..145202447-chr2:145209802..145215980,7	K562	blood:
3	chr2:145209344..145212290-chr2:145212621..145216971,7	K562	blood:
4	chr2:145212474..145214965-chr2:145215996..145218326,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35846190	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71428031	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145206800-145253400	Weak transcription	Lung	lung
2	chr2:145207400-145217400	Weak transcription	Spleen	Spleen
3	chr2:145207400-145218800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:145208800-145216200	Genic enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:145209200-145221000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:145209600-145219200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:145210000-145218200	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:145210600-145214800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:145210600-145214800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:145210600-145218800	Weak transcription	Right Ventricle	heart
11	chr2:145210600-145219800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:145210800-145215000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:145210800-145218800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:145211000-145216200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:145211000-145217400	Genic enhancers	K562	blood
16	chr2:145211200-145215800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:145211200-145217400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:145211400-145215000	Enhancers	A549	lung
19	chr2:145211400-145217400	Weak transcription	Psoas Muscle	Psoas
20	chr2:145211400-145218800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:145211400-145221000	Enhancers	Fetal Heart	heart
22	chr2:145211400-145231000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:145212000-145216200	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:145212000-145218200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:145212200-145215200	Enhancers	Adipose Nuclei	Adipose
26	chr2:145212200-145218200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:145212400-145216400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:145212600-145214800	Enhancers	HSMM	muscle
29	chr2:145212600-145216400	Weak transcription	Fetal Kidney	kidney
30	chr2:145212600-145219000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:145212800-145214800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:145212800-145214800	Enhancers	HUVEC	blood vessel
33	chr2:145212800-145217600	Weak transcription	Placenta	Placenta
34	chr2:145212800-145218200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:145213000-145214800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:145213000-145215000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:145213000-145215000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:145213000-145215000	Enhancers	Osteobl	bone
39	chr2:145213000-145215200	Enhancers	Fetal Lung	lung
40	chr2:145213000-145215200	Enhancers	NHLF	lung
41	chr2:145213000-145216400	Weak transcription	Fetal Brain Female	brain
42	chr2:145213000-145217000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:145213000-145217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:145213000-145217400	Weak transcription	Fetal Thymus	thymus
45	chr2:145213000-145217400	Weak transcription	Left Ventricle	heart
46	chr2:145213000-145218800	Enhancers	Brain Hippocampus Middle	brain
47	chr2:145213000-145218800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:145213000-145218800	Weak transcription	Right Atrium	heart
49	chr2:145213000-145219000	Enhancers	Brain Substantia Nigra	brain
50	chr2:145213000-145219200	Enhancers	Brain Cingulate Gyrus	brain

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