Variant report

Variant	rs549248307
Chromosome Location	chr2:183786117-183786118
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	chr2:183778975..183782738-chr2:183784220..183787705,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NCKAP1-2	chr2:183785780-183786620	NONHSAT075924
2	lnc-DNAJC10-5	chr2:183784638-183787512	NONHSAT075926

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3693446	chr2:183785598-183833514	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 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	chr2:183757400-183797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:183765200-183792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:183765600-183805200	Weak transcription	Gastric	stomach
4	chr2:183768600-183811600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:183769800-183811800	Weak transcription	Small Intestine	intestine
6	chr2:183770800-183787200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:183772400-183791000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:183772400-183799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:183772400-183811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:183772800-183786200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
12	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
13	chr2:183773600-183793000	Weak transcription	Fetal Brain Male	brain
14	chr2:183775000-183787000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:183775600-183833000	Weak transcription	Pancreas	Pancrea
16	chr2:183777800-183787200	Weak transcription	HepG2	liver
17	chr2:183778800-183786200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:183779000-183792800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:183780000-183792800	Weak transcription	Psoas Muscle	Psoas
20	chr2:183780000-183807000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:183780400-183787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:183780400-183788400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:183780400-183788600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:183780400-183790400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:183780400-183792400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:183780400-183800800	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
28	chr2:183780600-183791000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:183780600-183792800	Weak transcription	Ovary	ovary
30	chr2:183780800-183811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:183781000-183787000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:183781000-183798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:183781200-183786200	Weak transcription	Placenta	Placenta
34	chr2:183781200-183788600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:183781200-183789800	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:183781200-183791000	Weak transcription	NHLF	lung
37	chr2:183781200-183798200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:183781200-183805800	Weak transcription	Fetal Heart	heart
39	chr2:183781400-183786200	Weak transcription	Adipose Nuclei	Adipose
40	chr2:183781400-183786200	Weak transcription	HSMMtube	muscle
41	chr2:183781400-183790800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:183781400-183792200	Weak transcription	Hela-S3	cervix
43	chr2:183781400-183793000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:183781800-183790400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:183782200-183795400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:183782200-183814200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:183782400-183786200	Weak transcription	NHDF-Ad	bronchial
48	chr2:183782400-183787000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:183782400-183794600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:183783000-183799600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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