Variant report

Variant	rs7599038
Chromosome Location	chr2:33609306-33609307
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33608144..33609777-chr2:33613186..33615395,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11894366	1.00[EUR][1000 genomes]
rs17012717	1.00[EUR][1000 genomes]
rs17012719	1.00[EUR][1000 genomes]
rs17012722	1.00[EUR][1000 genomes]
rs17012726	1.00[EUR][1000 genomes]
rs17012731	1.00[EUR][1000 genomes]
rs17012736	1.00[EUR][1000 genomes]
rs17012740	1.00[EUR][1000 genomes]
rs17012759	1.00[EUR][1000 genomes]
rs17012783	1.00[EUR][1000 genomes]
rs41329047	1.00[EUR][1000 genomes]
rs6716750	1.00[EUR][1000 genomes]
rs6739808	1.00[YRI][hapmap]
rs73925691	1.00[EUR][1000 genomes]
rs7560761	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 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	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
3	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
4	chr2:33588400-33624400	Weak transcription	Gastric	stomach
5	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:33590800-33612600	Weak transcription	Ovary	ovary
9	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:33596200-33614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:33596400-33613800	Weak transcription	Liver	Liver
13	chr2:33597200-33622200	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:33597400-33610200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:33602200-33613600	Weak transcription	NHLF	lung
16	chr2:33603000-33610600	Weak transcription	Aorta	Aorta
17	chr2:33603200-33610600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:33603200-33611200	Weak transcription	Osteobl	bone
19	chr2:33604200-33613000	Weak transcription	NH-A	brain
20	chr2:33604200-33614000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:33604200-33616600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:33604200-33624800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:33604600-33623600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:33604800-33612400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:33604800-33612600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:33604800-33614000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:33604800-33616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:33604800-33616800	Weak transcription	Brain Anterior Caudate	brain
29	chr2:33605400-33616000	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:33606800-33611000	Weak transcription	Fetal Lung	lung
31	chr2:33607400-33611400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:33607600-33616600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:33608200-33614200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:33609000-33609800	Enhancers	Fetal Heart	heart
35	chr2:33609000-33609800	Enhancers	NHDF-Ad	bronchial
36	chr2:33609000-33610000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:33609000-33610400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:33609200-33609400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:33609200-33610000	Enhancers	Left Ventricle	heart

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