Variant report

Variant	rs72886604
Chromosome Location	chr2:47116019-47116020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46691412..46692513-chr2:47115934..47116752,3	MCF-7	breast:
2	chr2:46691358..46692227-chr2:47115825..47116785,3	K562	blood:
3	chr2:47115779..47117339-chr2:47120476..47123215,2	K562	blood:
4	chr2:46859576..46860085-chr2:47115905..47116595,2	MCF-7	breast:
5	chr2:47114369..47117073-chr2:47127351..47131177,3	K562	blood:
6	chr2:46877823..46878327-chr2:47115872..47116822,2	K562	blood:
7	chr2:47114899..47116611-chr2:47118256..47121288,3	K562	blood:
8	chr2:46768676..46769399-chr2:47115906..47116414,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250565	Chromatin interaction
ENSG00000119729	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6757522	1.00[AFR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
2	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
3	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:47109400-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:47109400-47125200	Weak transcription	Spleen	Spleen
6	chr2:47109800-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:47112200-47116600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:47113000-47116600	Weak transcription	Right Atrium	heart
9	chr2:47113200-47116200	Enhancers	NH-A	brain
10	chr2:47113200-47116600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:47113200-47116600	Enhancers	Osteobl	bone
12	chr2:47113200-47131200	Weak transcription	Aorta	Aorta
13	chr2:47113800-47116200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:47114000-47116200	Enhancers	NHLF	lung
15	chr2:47114200-47116200	Enhancers	HSMMtube	muscle
16	chr2:47115000-47116200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:47115200-47116800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:47115400-47116200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:47115600-47116200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:47115600-47116600	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:47115800-47116200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:47115800-47116200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:47115800-47116200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:47115800-47116200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:47115800-47116200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:47115800-47116200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:47115800-47116200	Enhancers	Placenta	Placenta
28	chr2:47115800-47116200	Enhancers	Fetal Stomach	stomach
29	chr2:47115800-47116200	Enhancers	Left Ventricle	heart
30	chr2:47115800-47116200	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:47115800-47116200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:47115800-47116200	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr2:47115800-47116200	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr2:47115800-47116200	Enhancers	HSMM	muscle
35	chr2:47115800-47116400	Enhancers	Colon Smooth Muscle	Colon
36	chr2:47115800-47116600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:47115800-47116600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr2:47115800-47116600	Enhancers	Brain Substantia Nigra	brain
39	chr2:47115800-47116600	Enhancers	Fetal Muscle Leg	muscle
40	chr2:47116000-47116200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:47116000-47116200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:47116000-47116200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:47116000-47116200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:47116000-47116200	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr2:47116000-47116200	Enhancers	Brain Anterior Caudate	brain
46	chr2:47116000-47116200	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr2:47116000-47116200	Enhancers	Brain Hippocampus Middle	brain
48	chr2:47116000-47116200	Enhancers	Fetal Brain Male	brain
49	chr2:47116000-47116200	Enhancers	Fetal Lung	lung
50	chr2:47116000-47116200	Flanking Active TSS	A549	lung

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