Variant report

Variant	rs28653157
Chromosome Location	chr2:179423882-179423883
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	chr2:179414832..179418077-chr2:179421948..179424136,3	K562	blood:
2	chr2:179312948..179315940-chr2:179423067..179424603,2	K562	blood:
3	chr2:179413558..179416652-chr2:179422354..179425366,4	K562	blood:
4	chr2:179389376..179391404-chr2:179422489..179424078,2	K562	blood:
5	chr2:179422059..179424305-chr2:179427109..179429987,2	K562	blood:
6	chr2:179411316..179413406-chr2:179423053..179424886,2	K562	blood:
7	chr2:179417176..179419985-chr2:179421877..179424794,3	MCF-7	breast:
8	chr2:179422561..179427533-chr2:179432302..179436598,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270277	Chromatin interaction
ENSG00000180228	Chromatin interaction

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

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

rs_ID	r²[population]
rs10164753	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497517	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11897366	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28560297	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28710392	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894023	1.00[ASN][1000 genomes]
rs4894025	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894027	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894028	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62621236	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710877	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732060	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735083	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747122	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808036	0.91[EUR][1000 genomes];1.00[ASN][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	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2757841	chr2:179409072-179608242	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759103	chr2:179409072-179608242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179388800-179429400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:179388800-179441800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:179388800-179448800	Weak transcription	Small Intestine	intestine
4	chr2:179388800-179495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:179389400-179428200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:179390600-179426400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179393800-179439800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:179396000-179445400	Strong transcription	Right Ventricle	heart
9	chr2:179396600-179432400	Weak transcription	Fetal Kidney	kidney
10	chr2:179405200-179427000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:179408000-179503000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:179408200-179436200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:179409200-179439200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:179410800-179428600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:179411000-179440000	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:179411000-179466000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:179411200-179440200	Weak transcription	Colonic Mucosa	Colon
18	chr2:179411600-179429400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:179412000-179441000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:179413200-179424800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:179413200-179435000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:179413400-179437400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:179413600-179424200	Strong transcription	Fetal Muscle Leg	muscle
24	chr2:179413600-179427800	Weak transcription	Esophagus	oesophagus
25	chr2:179413600-179438200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:179413600-179438800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:179413600-179440000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:179413800-179425400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:179413800-179426400	Weak transcription	Fetal Lung	lung
30	chr2:179413800-179427800	Weak transcription	Gastric	stomach
31	chr2:179413800-179436800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:179414000-179424800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:179414000-179428200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:179414000-179439000	Weak transcription	Brain Angular Gyrus	brain
35	chr2:179414000-179443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:179414200-179424800	Weak transcription	Fetal Brain Male	brain
37	chr2:179414200-179426400	Weak transcription	Thymus	Thymus
38	chr2:179414200-179427800	Weak transcription	Dnd41	blood
39	chr2:179414200-179428000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:179414200-179428000	Weak transcription	Liver	Liver
41	chr2:179414200-179431200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:179414200-179434800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:179414200-179435200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:179414200-179439200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:179414600-179426800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:179414800-179471800	Weak transcription	Brain Substantia Nigra	brain
47	chr2:179415000-179425200	Weak transcription	Lung	lung
48	chr2:179416000-179430200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:179417400-179426000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:179417600-179427600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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