Variant report

Variant	rs56243446
Chromosome Location	chr2:209146565-209146566
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	chr2:209143792..209146656-chr2:209148818..209151029,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55994647	1.00[AMR][1000 genomes]
rs6731510	1.00[AMR][1000 genomes]
rs6761598	1.00[AMR][1000 genomes]
rs73983732	0.85[AFR][1000 genomes]
rs73983738	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983751	1.00[AMR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209132800-209147600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:209134600-209149000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:209135200-209148800	Strong transcription	Dnd41	blood
5	chr2:209135800-209149000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:209135800-209150400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:209136000-209149200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:209136000-209149200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:209136000-209149200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:209136000-209154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:209136200-209146600	Strong transcription	Brain Anterior Caudate	brain
13	chr2:209136200-209148200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:209136200-209148200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:209136200-209148400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:209136200-209148400	Strong transcription	Adipose Nuclei	Adipose
17	chr2:209136200-209148400	Strong transcription	Placenta	Placenta
18	chr2:209136200-209148600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:209136200-209148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:209136200-209148600	Strong transcription	Liver	Liver
21	chr2:209136200-209148600	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:209136200-209148600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:209136200-209148800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr2:209136200-209149000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:209136200-209155000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:209136200-209155000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:209136200-209161600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:209137600-209148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:209137800-209148200	Strong transcription	Primary T cells from cord blood	blood
30	chr2:209137800-209148600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:209137800-209148600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:209137800-209149000	Strong transcription	A549	lung
33	chr2:209137800-209155000	Strong transcription	Fetal Intestine Large	intestine
34	chr2:209138000-209148800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:209138000-209149200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:209138000-209149200	Strong transcription	HepG2	liver
37	chr2:209138000-209155600	Strong transcription	Thymus	Thymus
38	chr2:209138200-209148200	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr2:209138200-209148400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:209138200-209148600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:209139000-209155000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:209139000-209163400	Weak transcription	Right Ventricle	heart
43	chr2:209139200-209159400	Weak transcription	Small Intestine	intestine
44	chr2:209139400-209147400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:209139400-209147400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:209139400-209147400	Weak transcription	Fetal Intestine Small	intestine
47	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
48	chr2:209139800-209161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:209140400-209148600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:209140400-209148600	Strong transcription	Fetal Lung	lung

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