Variant report

Variant	rs1868084
Chromosome Location	chr2:46570708-46570709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46568546..46570935-chr2:46583114..46585323,3	K562	blood:
2	chr2:46568546..46571959-chr2:46582321..46585149,3	K562	blood:
3	chr2:46570393..46572269-chr2:46573851..46576690,2	K562	blood:
4	chr2:46569601..46571271-chr2:46576825..46579452,2	K562	blood:
5	chr2:46568373..46571893-chr2:46572786..46575351,5	K562	blood:
6	chr2:46541137..46543394-chr2:46568182..46571814,3	K562	blood:

Variant related genes	Relation type
ENSG00000116016	Chromatin interaction

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

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

rs_ID	r²[population]
rs13412887	0.83[JPT][hapmap]

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	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46548000-46572200	Enhancers	Liver	Liver
2	chr2:46562800-46571800	Enhancers	Left Ventricle	heart
3	chr2:46563800-46579000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:46564600-46578800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:46564800-46573800	Weak transcription	Esophagus	oesophagus
6	chr2:46565200-46574200	Weak transcription	Thymus	Thymus
7	chr2:46565200-46574400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:46565600-46571000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:46565600-46573800	Weak transcription	HMEC	breast
10	chr2:46565800-46571600	Enhancers	Right Atrium	heart
11	chr2:46565800-46574400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:46566000-46572600	Weak transcription	NHEK	skin
13	chr2:46566000-46573800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:46566000-46575200	Weak transcription	HSMMtube	muscle
15	chr2:46566200-46572800	Weak transcription	Primary T cells from cord blood	blood
16	chr2:46566200-46574000	Weak transcription	Colonic Mucosa	Colon
17	chr2:46566600-46579200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:46567000-46574000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:46567000-46576800	Genic enhancers	Placenta	Placenta
20	chr2:46567200-46571000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:46567400-46584600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:46567600-46573200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:46567600-46573200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:46567600-46574400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:46567600-46576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:46567800-46575000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:46568000-46571000	Weak transcription	NHLF	lung
28	chr2:46568000-46571400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:46568000-46574000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:46568000-46596600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:46568200-46571800	Weak transcription	HepG2	liver
32	chr2:46568200-46574000	Weak transcription	Gastric	stomach
33	chr2:46568200-46575000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:46568400-46571400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:46568400-46571600	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:46568400-46574000	Weak transcription	A549	lung
37	chr2:46568800-46571000	Enhancers	K562	blood
38	chr2:46568800-46571200	Weak transcription	Osteobl	bone
39	chr2:46568800-46574800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:46569200-46571400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:46569200-46571600	Enhancers	Right Ventricle	heart
42	chr2:46569200-46573400	Enhancers	Ovary	ovary
43	chr2:46569400-46571200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:46569400-46571400	Weak transcription	Aorta	Aorta
45	chr2:46569400-46574000	Enhancers	Adipose Nuclei	Adipose
46	chr2:46569600-46571400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:46569600-46571600	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:46569600-46572000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:46569600-46573200	Weak transcription	Stomach Mucosa	stomach
50	chr2:46569600-46573800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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