Variant report

Variant	rs12104905
Chromosome Location	chr2:33373019-33373020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33363634..33367831-chr2:33371387..33375003,3	K562	blood:
2	chr2:33368241..33370517-chr2:33370553..33373234,2	K562	blood:
3	chr2:33372580..33375286-chr2:33379288..33381912,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs12105049	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	0.82[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:39 , 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	chr2:33365600-33375400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:33367200-33384000	Weak transcription	K562	blood
6	chr2:33369600-33373200	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:33369600-33389800	Weak transcription	Right Atrium	heart
8	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
9	chr2:33371600-33375000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:33371600-33382400	Weak transcription	Fetal Kidney	kidney
11	chr2:33371600-33383800	Weak transcription	HSMMtube	muscle
12	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
13	chr2:33371800-33374400	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr2:33371800-33374600	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:33371800-33374600	Weak transcription	Fetal Lung	lung
16	chr2:33371800-33374800	Weak transcription	Fetal Stomach	stomach
17	chr2:33371800-33377800	Weak transcription	NHDF-Ad	bronchial
18	chr2:33371800-33382800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:33372000-33374000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:33372000-33374800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:33372000-33378400	Weak transcription	Ovary	ovary
22	chr2:33372200-33373200	Weak transcription	Fetal Heart	heart
23	chr2:33372400-33373600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:33372400-33373600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:33372400-33374000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:33372600-33373200	Genic enhancers	Aorta	Aorta
27	chr2:33372600-33373200	Genic enhancers	NH-A	brain
28	chr2:33372600-33373400	Strong transcription	Liver	Liver
29	chr2:33372600-33374400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:33372600-33374600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:33372800-33373200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:33372800-33373200	Genic enhancers	NHLF	lung
33	chr2:33372800-33373200	Genic enhancers	Osteobl	bone
34	chr2:33372800-33373600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:33372800-33374600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:33373000-33373200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:33373000-33373200	Strong transcription	Left Ventricle	heart
38	chr2:33373000-33374400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:33373000-33375000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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