Variant report

Variant	rs12613243
Chromosome Location	chr2:111897506-111897507
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	chr2:111891793..111893976-chr2:111895224..111897547,2	K562	blood:
2	chr2:111894630..111898170-chr2:111898785..111903237,6	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12615741	0.80[ASN][1000 genomes]
rs17041868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3761706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3789059	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs3789066	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3789067	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61484463	0.83[ASN][1000 genomes]
rs72948328	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73954922	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73954926	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73954941	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73954943	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:111881200-111909600	Weak transcription	NHLF	lung
3	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:111881800-111900800	Weak transcription	Fetal Brain Male	brain
7	chr2:111881800-111908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:111881800-111909600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:111883400-111907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:111883400-111909400	Weak transcription	Aorta	Aorta
12	chr2:111883400-111912600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:111883600-111909400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:111883600-111909600	Weak transcription	Small Intestine	intestine
15	chr2:111883800-111897600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:111883800-111898400	Weak transcription	Brain Angular Gyrus	brain
17	chr2:111883800-111904000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:111884000-111901600	Weak transcription	Hela-S3	cervix
19	chr2:111884600-111909400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:111886200-111900800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:111887000-111902600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:111887400-111912000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:111887600-111899400	Weak transcription	Colonic Mucosa	Colon
25	chr2:111887800-111898400	Weak transcription	Fetal Kidney	kidney
26	chr2:111889800-111900800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:111890600-111914400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:111891400-111905800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:111891800-111902600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:111892400-111899000	Strong transcription	Fetal Intestine Large	intestine
31	chr2:111892800-111898000	Strong transcription	Fetal Stomach	stomach
32	chr2:111892800-111898800	Strong transcription	Fetal Intestine Small	intestine
33	chr2:111892800-111903000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:111893000-111897800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:111893000-111898800	Strong transcription	Primary T cells from cord blood	blood
36	chr2:111893000-111899000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:111893000-111903000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:111893200-111898800	Strong transcription	K562	blood
39	chr2:111893400-111898800	Strong transcription	Dnd41	blood
40	chr2:111893400-111900000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:111893400-111903400	Strong transcription	Fetal Thymus	thymus
42	chr2:111893400-111906000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:111893600-111898400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:111893600-111899000	Strong transcription	Primary B cells from cord blood	blood
45	chr2:111893600-111903200	Strong transcription	Thymus	Thymus
46	chr2:111893600-111905600	Weak transcription	Fetal Heart	heart
47	chr2:111893600-111909200	Weak transcription	Brain Substantia Nigra	brain
48	chr2:111893600-111913400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:111893600-111916800	Weak transcription	HSMM	muscle
50	chr2:111893600-111918600	Weak transcription	Colon Smooth Muscle	Colon

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