Variant report

Variant	rs12622691
Chromosome Location	chr2:86453673-86453674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86451560..86455569-chr2:86456212..86459487,3	K562	blood:
2	chr2:86452854..86455973-chr2:86457257..86460636,3	K562	blood:
3	chr2:86453452..86455586-chr2:86457167..86459065,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11127017	0.90[ASN][1000 genomes]
rs12617962	1.00[EUR][1000 genomes]
rs12622715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623755	1.00[EUR][1000 genomes]
rs12623761	1.00[EUR][1000 genomes]
rs1559512	0.90[ASN][1000 genomes]
rs34339158	1.00[EUR][1000 genomes]
rs4832257	0.90[ASN][1000 genomes]
rs57367442	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60785155	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60838463	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
22	esv3381993	chr2:86453423-86453716	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86448200-86454600	Enhancers	Fetal Muscle Leg	muscle
2	chr2:86448200-86454600	Enhancers	Left Ventricle	heart
3	chr2:86449000-86453800	Enhancers	Right Ventricle	heart
4	chr2:86449000-86454200	Enhancers	Fetal Heart	heart
5	chr2:86450000-86453800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:86450200-86458200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:86450800-86455200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:86450800-86455400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:86450800-86457200	Weak transcription	Pancreas	Pancrea
10	chr2:86450800-86463400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:86450800-86476400	Weak transcription	Fetal Brain Male	brain
12	chr2:86451400-86458000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:86451600-86456200	Weak transcription	Fetal Intestine Large	intestine
14	chr2:86451600-86457200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:86451600-86458000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:86451800-86455400	Enhancers	Lung	lung
17	chr2:86451800-86457200	Enhancers	Primary B cells from cord blood	blood
18	chr2:86451800-86457200	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:86451800-86459600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:86451800-86462400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:86452000-86453800	Weak transcription	Brain Germinal Matrix	brain
22	chr2:86452000-86456600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:86452000-86462200	Weak transcription	HSMMtube	muscle
24	chr2:86452200-86453800	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:86452200-86461800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:86452400-86458000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:86452400-86458000	Weak transcription	Fetal Lung	lung
28	chr2:86452400-86467400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:86452400-86477400	Weak transcription	Brain Angular Gyrus	brain
30	chr2:86453000-86455200	Weak transcription	NHEK	skin
31	chr2:86453000-86456200	Weak transcription	Brain Anterior Caudate	brain
32	chr2:86453000-86456200	Weak transcription	Fetal Intestine Small	intestine
33	chr2:86453000-86461600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:86453000-86461600	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:86453200-86454400	Enhancers	GM12878-XiMat	blood
36	chr2:86453200-86455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:86453200-86455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:86453200-86456200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:86453200-86456200	Weak transcription	Fetal Thymus	thymus
40	chr2:86453200-86456600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr2:86453200-86457600	Weak transcription	Fetal Stomach	stomach
42	chr2:86453200-86458200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:86453200-86459200	Weak transcription	Esophagus	oesophagus
44	chr2:86453200-86462200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:86453200-86467600	Weak transcription	Spleen	Spleen
46	chr2:86453200-86468400	Weak transcription	Gastric	stomach
47	chr2:86453200-86475800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:86453400-86454000	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:86453400-86456200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:86453400-86457800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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