Variant report

Variant	rs72861439
Chromosome Location	chr2:33596720-33596721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31754907..31757309-chr2:33596242..33598606,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11899010	0.98[EUR][1000 genomes]
rs59136259	1.00[EUR][1000 genomes]
rs72861407	0.86[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:42 , 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	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
5	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:33586200-33603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:33588400-33624400	Weak transcription	Gastric	stomach
8	chr2:33589200-33598000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:33589600-33597600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:33590800-33612600	Weak transcription	Ovary	ovary
14	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:33591800-33601800	Weak transcription	NHLF	lung
16	chr2:33592000-33597000	Strong transcription	Osteobl	bone
17	chr2:33592000-33600200	Weak transcription	Psoas Muscle	Psoas
18	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:33592400-33601600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:33593800-33598400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:33594400-33597200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:33594800-33597000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:33594800-33597400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr2:33595000-33597000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:33595200-33601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:33595200-33609200	Weak transcription	Left Ventricle	heart
27	chr2:33595400-33597600	Enhancers	Brain Hippocampus Middle	brain
28	chr2:33595600-33597000	Genic enhancers	Fetal Heart	heart
29	chr2:33595600-33597400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:33595600-33597400	Enhancers	NHDF-Ad	bronchial
31	chr2:33595800-33597400	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:33595800-33598000	Enhancers	Brain Substantia Nigra	brain
33	chr2:33596000-33597000	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:33596200-33597400	Enhancers	Brain Angular Gyrus	brain
35	chr2:33596200-33599000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:33596200-33599000	Weak transcription	Fetal Lung	lung
37	chr2:33596200-33601400	Weak transcription	Aorta	Aorta
38	chr2:33596200-33614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:33596400-33596800	Weak transcription	Brain Anterior Caudate	brain
40	chr2:33596400-33597000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:33596400-33613800	Weak transcription	Liver	Liver
42	chr2:33596600-33603800	Weak transcription	NH-A	brain

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