Variant report

Variant	rs11124056
Chromosome Location	chr2:98777673-98777674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98766384..98768153-chr2:98776231..98777799,2	K562	blood:
2	chr2:98766384..98769751-chr2:98776231..98780220,5	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13022257	1.00[EUR][1000 genomes]
rs13406725	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851830	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4851839	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7370560	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9973921	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973945	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834309	chr2:98643304-98793838	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv527817	chr2:98701043-98791433	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1014962	chr2:98704622-98795737	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv999736	chr2:98706669-98811075	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98764400-98780400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:98770800-98782800	Enhancers	Fetal Muscle Leg	muscle
3	chr2:98771800-98778800	Weak transcription	Fetal Brain Female	brain
4	chr2:98772200-98790600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:98773600-98779200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:98774000-98780800	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:98774000-98781000	Enhancers	HSMMtube	muscle
8	chr2:98775000-98782200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:98775200-98777800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:98775200-98778800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:98775200-98778800	Weak transcription	Ovary	ovary
12	chr2:98775200-98779200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:98775400-98779400	Weak transcription	Esophagus	oesophagus
14	chr2:98775600-98778800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:98776000-98778000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr2:98776400-98780600	Enhancers	Fetal Thymus	thymus
17	chr2:98776600-98777800	Enhancers	Fetal Lung	lung
18	chr2:98776600-98778200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:98776800-98777800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:98776800-98777800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:98776800-98778000	Enhancers	Aorta	Aorta
22	chr2:98776800-98778200	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:98776800-98778800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:98776800-98779600	Enhancers	HSMM	muscle
25	chr2:98776800-98780600	Enhancers	Left Ventricle	heart
26	chr2:98777000-98777800	Enhancers	Fetal Brain Male	brain
27	chr2:98777000-98777800	Enhancers	HMEC	breast
28	chr2:98777200-98778800	Enhancers	NHEK	skin
29	chr2:98777400-98777800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:98777400-98778000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:98777400-98778400	Bivalent Enhancer	Fetal Stomach	stomach
32	chr2:98777400-98778600	Enhancers	Right Ventricle	heart
33	chr2:98777400-98778600	Weak transcription	Osteobl	bone
34	chr2:98777400-98780000	Enhancers	Right Atrium	heart
35	chr2:98777600-98778000	Enhancers	Spleen	Spleen
36	chr2:98777600-98778600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:98777600-98778600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:98777600-98778600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:98777600-98778800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:98777600-98778800	Enhancers	Fetal Heart	heart
41	chr2:98777600-98780600	Enhancers	Stomach Smooth Muscle	stomach
42	chr2:98777600-98780800	Enhancers	Psoas Muscle	Psoas

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