Variant report

Variant	rs12105049
Chromosome Location	chr2:33375626-33375627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12104905	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12105569	1.00[AMR][1000 genomes]
rs1454377	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17012599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012645	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012647	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012677	1.00[AMR][1000 genomes]
rs55676641	1.00[AMR][1000 genomes]
rs57040194	1.00[AMR][1000 genomes]
rs58248415	1.00[AMR][1000 genomes]
rs58447746	1.00[AMR][1000 genomes]
rs59291317	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61050968	1.00[AMR][1000 genomes]
rs61154196	1.00[AMR][1000 genomes]
rs61163843	1.00[AMR][1000 genomes]
rs6706960	1.00[AMR][1000 genomes]
rs6707278	1.00[AMR][1000 genomes]
rs6710588	1.00[AMR][1000 genomes]
rs6719885	1.00[AMR][1000 genomes]
rs6724967	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736870	1.00[AMR][1000 genomes]
rs6739497	1.00[AMR][1000 genomes]
rs6741450	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6752263	1.00[AMR][1000 genomes]
rs73924181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924186	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924192	1.00[AMR][1000 genomes]
rs73924195	1.00[AMR][1000 genomes]
rs73924197	1.00[AMR][1000 genomes]
rs73925003	1.00[AMR][1000 genomes]
rs73925009	1.00[AMR][1000 genomes]
rs73925011	1.00[AMR][1000 genomes]
rs73925681	1.00[AMR][1000 genomes]
rs73927363	1.00[AMR][1000 genomes]
rs7594149	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs957131	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS 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	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33360000-33378400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:33360200-33385800	Weak transcription	Placenta	Placenta
3	chr2:33362600-33382400	Weak transcription	HUVEC	blood vessel
4	chr2:33367200-33384000	Weak transcription	K562	blood
5	chr2:33369600-33389800	Weak transcription	Right Atrium	heart
6	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
7	chr2:33371600-33382400	Weak transcription	Fetal Kidney	kidney
8	chr2:33371600-33383800	Weak transcription	HSMMtube	muscle
9	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
10	chr2:33371800-33377800	Weak transcription	NHDF-Ad	bronchial
11	chr2:33371800-33382800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:33372000-33378400	Weak transcription	Ovary	ovary
13	chr2:33373200-33376400	Strong transcription	Osteobl	bone
14	chr2:33373200-33378400	Weak transcription	Aorta	Aorta
15	chr2:33373200-33382800	Weak transcription	Left Ventricle	heart
16	chr2:33373400-33376000	Weak transcription	Liver	Liver
17	chr2:33373800-33377800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:33373800-33382000	Weak transcription	Fetal Heart	heart
19	chr2:33374000-33377200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:33374000-33377800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:33374000-33384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:33374600-33378800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:33375000-33375800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:33375000-33376000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:33375000-33377000	Weak transcription	Fetal Stomach	stomach
26	chr2:33375000-33377600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:33375000-33377600	Weak transcription	NHLF	lung
28	chr2:33375000-33377800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:33375000-33378000	Weak transcription	NH-A	brain
30	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:33375200-33377800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:33375200-33378200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:33375400-33377200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:33375400-33378200	Weak transcription	Stomach Smooth Muscle	stomach

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