Variant report

Variant	rs11682676
Chromosome Location	chr2:113441291-113441292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113440346..113442226-chr2:113462249..113464616,2	K562	blood:
2	chr2:113414861..113418760-chr2:113440477..113444224,4	K562	blood:
3	chr2:113441073..113442990-chr2:113446510..113448315,2	MCF-7	breast:
4	chr2:113441111..113444198-chr2:113446439..113450510,4	MCF-7	breast:
5	chr2:113403180..113405105-chr2:113440364..113443067,3	MCF-7	breast:
6	chr2:113421512..113426143-chr2:113441172..113445759,7	K562	blood:
7	chr2:113439858..113444017-chr2:113482331..113485894,3	K562	blood:
8	chr2:113440402..113444876-chr2:113446106..113453600,11	K562	blood:
9	chr2:113397350..113406961-chr2:113434420..113455729,52	K562	blood:
10	chr2:113439718..113441433-chr2:113442493..113444348,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10172772	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779885	0.82[ASN][1000 genomes]
rs11676751	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680181	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12467747	0.82[ASN][1000 genomes]
rs4261730	0.82[ASN][1000 genomes]
rs4848287	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848289	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4849101	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4849102	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55801413	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55912748	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6711158	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728935	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589655	0.86[AMR][1000 genomes];0.82[EUR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113421400-113448400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113423200-113445000	Weak transcription	Fetal Brain Male	brain
3	chr2:113423400-113448400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:113437000-113445800	Enhancers	Hela-S3	cervix
5	chr2:113437400-113446200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:113437400-113449800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:113437600-113446000	Weak transcription	Fetal Brain Female	brain
8	chr2:113438600-113441400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:113438800-113441600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:113438800-113443800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:113439200-113442000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:113439200-113443200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:113439400-113442400	Enhancers	Placenta	Placenta
14	chr2:113439600-113442200	Enhancers	Fetal Muscle Leg	muscle
15	chr2:113439800-113446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:113440000-113442800	Weak transcription	Primary B cells from cord blood	blood
17	chr2:113440000-113444800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr2:113440400-113441600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:113440600-113441800	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:113440600-113442400	Enhancers	Lung	lung
21	chr2:113440800-113441800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:113440800-113441800	Enhancers	Spleen	Spleen
23	chr2:113440800-113442400	Enhancers	HUVEC	blood vessel
24	chr2:113441000-113441800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:113441000-113441800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:113441000-113441800	Enhancers	Esophagus	oesophagus
27	chr2:113441000-113441800	Enhancers	Fetal Thymus	thymus
28	chr2:113441000-113442000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:113441000-113442000	Enhancers	Stomach Mucosa	stomach
30	chr2:113441000-113442200	Flanking Active TSS	K562	blood
31	chr2:113441000-113442600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:113441000-113443000	Enhancers	HSMMtube	muscle
33	chr2:113441000-113444400	Enhancers	GM12878-XiMat	blood
34	chr2:113441200-113441400	Enhancers	Colonic Mucosa	Colon
35	chr2:113441200-113441400	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr2:113441200-113441600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:113441200-113441600	Weak transcription	Adipose Nuclei	Adipose
38	chr2:113441200-113441600	Enhancers	Duodenum Mucosa	Duodenum
39	chr2:113441200-113441800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:113441200-113441800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:113441200-113441800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:113441200-113441800	Enhancers	Gastric	stomach
43	chr2:113441200-113441800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:113441200-113441800	Enhancers	Dnd41	blood
45	chr2:113441200-113442200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:113441200-113442200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:113441200-113442200	Enhancers	Psoas Muscle	Psoas
48	chr2:113441200-113442400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:113441200-113443000	Enhancers	Primary hematopoietic stem cells	blood
50	chr2:113441200-113443200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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