Variant report

Variant	rs1986706
Chromosome Location	chr2:149246447-149246448
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	chr2:149244268..149247294-chr2:149251555..149254307,3	K562	blood:
2	chr2:149244708..149247294-chr2:149251980..149254307,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12620213	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1404183	0.92[EUR][1000 genomes]
rs16828672	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16828691	0.94[EUR][1000 genomes]
rs57165062	0.88[EUR][1000 genomes]
rs73003507	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73003513	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73003524	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
6	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149215000-149246800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:149220200-149247000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:149224400-149247000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:149224600-149247000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:149225000-149249200	Weak transcription	NHLF	lung
6	chr2:149226800-149250200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:149227000-149247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:149227200-149259200	Weak transcription	Right Ventricle	heart
9	chr2:149227400-149247000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:149227400-149250800	Weak transcription	Primary B cells from cord blood	blood
11	chr2:149227400-149251400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:149227600-149246600	Weak transcription	Fetal Brain Male	brain
13	chr2:149227600-149246800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:149227600-149247000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:149227600-149247000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:149227600-149247000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:149227600-149247000	Weak transcription	Brain Anterior Caudate	brain
18	chr2:149227600-149247000	Weak transcription	Brain Germinal Matrix	brain
19	chr2:149227600-149247000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:149227600-149247000	Weak transcription	Fetal Kidney	kidney
21	chr2:149227600-149247000	Weak transcription	Spleen	Spleen
22	chr2:149227600-149259200	Weak transcription	Gastric	stomach
23	chr2:149227800-149246800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:149227800-149247000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:149227800-149247000	Weak transcription	Adipose Nuclei	Adipose
26	chr2:149227800-149247000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:149227800-149247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:149227800-149247000	Weak transcription	Fetal Lung	lung
29	chr2:149227800-149247000	Weak transcription	Fetal Thymus	thymus
30	chr2:149227800-149251000	Weak transcription	GM12878-XiMat	blood
31	chr2:149227800-149259200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:149228000-149246800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:149228000-149246800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:149228000-149247000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:149228000-149247000	Weak transcription	Primary T cells from cord blood	blood
36	chr2:149228000-149247000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:149228000-149247000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:149228000-149247000	Weak transcription	Aorta	Aorta
39	chr2:149228000-149247000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:149228000-149247000	Weak transcription	Fetal Intestine Small	intestine
41	chr2:149228000-149247000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:149228000-149247000	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:149228000-149247000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:149228000-149247000	Weak transcription	HSMMtube	muscle
45	chr2:149228000-149259200	Weak transcription	Pancreas	Pancrea
46	chr2:149228400-149251400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:149237800-149247000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:149239400-149247000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:149240800-149247000	Weak transcription	Brain Substantia Nigra	brain
50	chr2:149241400-149247000	Weak transcription	Left Ventricle	heart

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