Variant report

Variant	rs16823715
Chromosome Location	chr2:183945032-183945033
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183902000..183906390-chr2:183941845..183945087,6	MCF-7	breast:
2	chr2:183939801..183941684-chr2:183944000..183946021,2	K562	blood:
3	chr2:183936424..183941841-chr2:183941943..183946520,8	K562	blood:
4	chr2:183902084..183904738-chr2:183944914..183946560,2	K562	blood:

Variant related genes	Relation type
ENSG00000061676	Chromatin interaction
ENSG00000231203	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72890311	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72890362	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900514	1.00[ASN][1000 genomes]
rs72900782	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183943000-183945600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:183944000-183945400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:183944200-183945600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:183944200-183945600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:183944400-183945400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:183944400-183945600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:183944400-183945800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:183944400-183946600	Weak transcription	HSMMtube	muscle
9	chr2:183944400-183946800	Weak transcription	Pancreas	Pancrea
10	chr2:183944600-183945400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:183944600-183945600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:183944600-183945600	Enhancers	Small Intestine	intestine
13	chr2:183944600-183946200	Weak transcription	NH-A	brain
14	chr2:183944600-183946400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:183944600-183946400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:183944600-183946400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:183944600-183946600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:183944600-183954000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:183944600-183955400	Weak transcription	Psoas Muscle	Psoas
20	chr2:183944600-183957400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:183944600-183963200	Weak transcription	Brain Angular Gyrus	brain
22	chr2:183944800-183945200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:183944800-183945200	Weak transcription	GM12878-XiMat	blood
24	chr2:183944800-183945400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:183944800-183945600	Enhancers	Aorta	Aorta
26	chr2:183944800-183945600	Enhancers	Colon Smooth Muscle	Colon
27	chr2:183944800-183945800	Enhancers	Fetal Heart	heart
28	chr2:183944800-183945800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:183944800-183946600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:183944800-183956000	Weak transcription	Liver	Liver
31	chr2:183944800-183956000	Weak transcription	Right Ventricle	heart
32	chr2:183944800-183962200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:183944800-183962800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:183945000-183945200	Weak transcription	Fetal Intestine Large	intestine
35	chr2:183945000-183945200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:183945000-183945600	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:183945000-183945800	Weak transcription	Right Atrium	heart
38	chr2:183945000-183945800	Active TSS	Stomach Smooth Muscle	stomach
39	chr2:183945000-183945800	Enhancers	K562	blood
40	chr2:183945000-183946400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:183945000-183946400	Weak transcription	Osteobl	bone
42	chr2:183945000-183946800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:183945000-183946800	Weak transcription	Fetal Brain Female	brain
44	chr2:183945000-183948800	Weak transcription	Ovary	ovary
45	chr2:183945000-183954000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:183945000-183956000	Weak transcription	Brain Anterior Caudate	brain
47	chr2:183945000-183960200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:183945000-183961800	Weak transcription	Left Ventricle	heart
49	chr2:183945000-183962600	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:183945000-183963400	Weak transcription	Fetal Intestine Small	intestine

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