Variant report

Variant	rs12618862
Chromosome Location	chr2:101181836-101181837
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101033038..101035627-chr2:101178228..101182939,5	K562	blood:
2	chr2:101032545..101035627-chr2:101179557..101182939,4	K562	blood:

Variant related genes	Relation type
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1052117	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12469332	0.82[EUR][1000 genomes]
rs12622226	0.83[EUR][1000 genomes]
rs13418741	0.83[EUR][1000 genomes]
rs1533655	0.82[EUR][1000 genomes]
rs2309848	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28560372	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28694778	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2971007	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61370232	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62155213	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6739992	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6747613	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6748900	0.90[EUR][1000 genomes]
rs6753993	0.90[EUR][1000 genomes]
rs7557603	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7560366	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7594904	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7596475	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101180200-101182800	Weak transcription	Ovary	ovary
2	chr2:101180200-101183000	Weak transcription	Aorta	Aorta
3	chr2:101180200-101194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:101180400-101182800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:101180400-101183000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:101180400-101183000	Weak transcription	Fetal Thymus	thymus
7	chr2:101180400-101183000	Weak transcription	HSMMtube	muscle
8	chr2:101180400-101183200	Weak transcription	Right Ventricle	heart
9	chr2:101180400-101183600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:101180400-101186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:101180400-101187200	Weak transcription	Fetal Kidney	kidney
12	chr2:101180400-101188400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:101180600-101182600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:101180600-101182600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:101180600-101182800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:101180600-101182800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:101180600-101182800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:101180600-101182800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:101180600-101182800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:101180600-101182800	Weak transcription	Fetal Brain Female	brain
21	chr2:101180600-101182800	Weak transcription	Fetal Lung	lung
22	chr2:101180600-101182800	Weak transcription	Left Ventricle	heart
23	chr2:101180600-101182800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:101180600-101182800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:101180600-101183000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:101180600-101183000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:101180600-101183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:101180600-101183000	Weak transcription	Liver	Liver
29	chr2:101180600-101183000	Weak transcription	Fetal Intestine Small	intestine
30	chr2:101180600-101183000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:101180600-101183000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:101180600-101183000	Weak transcription	HSMM	muscle
33	chr2:101180600-101183000	Weak transcription	Osteobl	bone
34	chr2:101180600-101183200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:101180600-101183200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:101180600-101183200	Weak transcription	Thymus	Thymus
37	chr2:101180600-101183400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:101180600-101185200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:101180600-101187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:101180600-101192600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:101180600-101192800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:101180600-101193400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:101180600-101194400	Weak transcription	NHDF-Ad	bronchial
44	chr2:101180600-101197800	Weak transcription	Stomach Mucosa	stomach
45	chr2:101180800-101182000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:101180800-101182000	Weak transcription	A549	lung
47	chr2:101180800-101182600	Weak transcription	Primary B cells from cord blood	blood
48	chr2:101180800-101182600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:101180800-101182600	Weak transcription	Brain Germinal Matrix	brain
50	chr2:101180800-101182600	Weak transcription	Monocytes-CD14+_RO01746	blood

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