Variant report

Variant	rs16865279
Chromosome Location	chr2:178303824-178303825
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	chr2:178299085..178302071-chr2:178302122..178306452,3	K562	blood:

Variant related genes	Relation type
ENSG00000018510	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1046370	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10497507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16865184	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16865187	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16865191	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16865226	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16865234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7557924	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178287200-178310600	Weak transcription	Stomach Mucosa	stomach
2	chr2:178287600-178314200	Weak transcription	Gastric	stomach
3	chr2:178295400-178329800	Weak transcription	Pancreas	Pancrea
4	chr2:178295400-178330000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:178295400-178330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:178295600-178306200	Weak transcription	Osteobl	bone
7	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:178296600-178319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:178296800-178306800	Weak transcription	Placenta	Placenta
10	chr2:178296800-178310000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:178297000-178306000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:178297000-178313400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:178297200-178315400	Strong transcription	HepG2	liver
14	chr2:178297800-178312800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:178297800-178314200	Weak transcription	Fetal Stomach	stomach
16	chr2:178297800-178319600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:178297800-178329800	Weak transcription	Ovary	ovary
18	chr2:178298000-178306400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:178298400-178306200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:178298400-178308800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:178298400-178309800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:178298400-178314200	Weak transcription	Left Ventricle	heart
23	chr2:178298600-178307200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:178298800-178306800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:178298800-178309600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:178298800-178312600	Weak transcription	HSMMtube	muscle
27	chr2:178298800-178313600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:178298800-178313800	Strong transcription	Dnd41	blood
29	chr2:178298800-178314000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:178298800-178314000	Weak transcription	Fetal Intestine Small	intestine
31	chr2:178298800-178329200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:178298800-178329800	Weak transcription	Colonic Mucosa	Colon
33	chr2:178298800-178329800	Weak transcription	Thymus	Thymus
34	chr2:178298800-178330200	Weak transcription	Aorta	Aorta
35	chr2:178298800-178330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:178298800-178331600	Weak transcription	NHDF-Ad	bronchial
37	chr2:178298800-178336800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:178298800-178357800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:178299000-178304000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:178299000-178304200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:178299000-178306800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:178299000-178306800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:178299000-178308200	Weak transcription	Fetal Intestine Large	intestine
44	chr2:178299000-178310600	Weak transcription	Lung	lung
45	chr2:178299000-178312800	Weak transcription	Liver	Liver
46	chr2:178299000-178313200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:178299000-178313600	Weak transcription	Fetal Lung	lung
48	chr2:178299000-178313600	Weak transcription	NH-A	brain
49	chr2:178299000-178314000	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:178299000-178329800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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