Variant report

Variant	rs17012599
Chromosome Location	chr2:33370189-33370190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33359671..33361313-chr2:33368452..33370513,2	K562	blood:
2	chr2:33368241..33370517-chr2:33370553..33373234,2	K562	blood:
3	chr2:33360506..33363015-chr2:33369952..33372450,2	K562	blood:
4	chr2:33369700..33371935-chr2:33440247..33441794,2	K562	blood:

Variant related genes	Relation type
ENSG00000049323	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12104905	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12105049	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12105569	1.00[AMR][1000 genomes]
rs1454377	1.00[AMR][1000 genomes]
rs17012645	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012647	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012677	0.83[AFR][1000 genomes];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	0.86[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736870	1.00[AMR][1000 genomes]
rs6739497	1.00[AMR][1000 genomes]
rs6741450	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924181	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924186	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924192	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924195	0.83[AFR][1000 genomes];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]
rs73927363	1.00[AMR][1000 genomes]
rs7594149	1.00[AMR][1000 genomes]
rs957131	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	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
9	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33358800-33371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33360000-33373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33360000-33378400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:33360200-33372600	Weak transcription	Liver	Liver
5	chr2:33360200-33385800	Weak transcription	Placenta	Placenta
6	chr2:33362600-33382400	Weak transcription	HUVEC	blood vessel
7	chr2:33363200-33371200	Weak transcription	Ovary	ovary
8	chr2:33365400-33370800	Weak transcription	HSMMtube	muscle
9	chr2:33365400-33371200	Weak transcription	NH-A	brain
10	chr2:33365600-33375400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:33367200-33384000	Weak transcription	K562	blood
12	chr2:33367600-33371800	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:33368200-33372800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:33368400-33370600	Weak transcription	Fetal Kidney	kidney
15	chr2:33368400-33372400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:33368600-33370400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:33368800-33371800	Enhancers	Colon Smooth Muscle	Colon
18	chr2:33368800-33372200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:33368800-33372600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:33369200-33370400	Enhancers	NHDF-Ad	bronchial
21	chr2:33369200-33372200	Enhancers	Fetal Heart	heart
22	chr2:33369400-33370400	Weak transcription	Fetal Stomach	stomach
23	chr2:33369400-33371000	Enhancers	NHLF	lung
24	chr2:33369600-33370200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:33369600-33370400	Weak transcription	Aorta	Aorta
26	chr2:33369600-33370400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:33369600-33371000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:33369600-33371000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:33369600-33371200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:33369600-33371200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:33369600-33371200	Weak transcription	Left Ventricle	heart
32	chr2:33369600-33371200	Weak transcription	Psoas Muscle	Psoas
33	chr2:33369600-33371200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:33369600-33373200	Enhancers	Stomach Smooth Muscle	stomach
35	chr2:33369600-33389800	Weak transcription	Right Atrium	heart
36	chr2:33369800-33370200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:33369800-33370400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:33369800-33370400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:33369800-33370800	Enhancers	Osteobl	bone
40	chr2:33369800-33371200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:33369800-33372000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
43	chr2:33370000-33371200	Weak transcription	Fetal Lung	lung

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