Variant report

Variant	rs17012639
Chromosome Location	chr2:33394319-33394320
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	chr2:33383408..33387314-chr2:33391651..33394582,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11689160	1.00[YRI][hapmap]
rs17012604	1.00[AFR][1000 genomes]
rs17012612	1.00[YRI][hapmap]
rs17012615	1.00[YRI][hapmap]
rs17012619	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17012621	1.00[YRI][hapmap]
rs17012630	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
2	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:33389800-33394400	Enhancers	NHDF-Ad	bronchial
5	chr2:33390000-33394400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:33390000-33394400	Enhancers	NHLF	lung
7	chr2:33390200-33394800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:33390400-33394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:33391800-33394400	Enhancers	Ovary	ovary
10	chr2:33391800-33394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:33392000-33394400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:33392200-33394400	Enhancers	Osteobl	bone
13	chr2:33392200-33411800	Weak transcription	Left Ventricle	heart
14	chr2:33392400-33394400	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:33392600-33394400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:33392600-33405600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:33392800-33413600	Weak transcription	HUVEC	blood vessel
18	chr2:33393000-33405000	Weak transcription	Aorta	Aorta
19	chr2:33393200-33408400	Weak transcription	NH-A	brain
20	chr2:33393400-33405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:33393800-33394800	Enhancers	Fetal Kidney	kidney
22	chr2:33393800-33395000	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:33394000-33394400	Enhancers	Fetal Lung	lung
24	chr2:33394000-33394600	Weak transcription	Fetal Heart	heart
25	chr2:33394000-33396800	Weak transcription	Fetal Stomach	stomach
26	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:33394200-33401600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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