Variant report

Variant	rs116497805
Chromosome Location	chr2:64343574-64343575
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64342710..64344568-chr2:64368556..64370668,2	K562	blood:

Variant related genes	Relation type
ENSG00000225889	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
9	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
2	chr2:64324400-64344800	Weak transcription	HSMMtube	muscle
3	chr2:64334000-64349200	Weak transcription	Fetal Kidney	kidney
4	chr2:64334400-64350200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:64334800-64346600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:64335200-64348000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:64335200-64348200	Weak transcription	Placenta	Placenta
9	chr2:64336000-64344400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:64336400-64344400	Enhancers	Primary T cells from cord blood	blood
11	chr2:64336400-64351400	Weak transcription	Fetal Stomach	stomach
12	chr2:64336400-64353400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:64338200-64344000	Enhancers	Colon Smooth Muscle	Colon
14	chr2:64338200-64344200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:64338600-64350800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:64338800-64344600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:64339200-64344200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:64339400-64345000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:64340400-64343800	Enhancers	Liver	Liver
20	chr2:64340400-64344200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:64340400-64344200	Enhancers	Brain Anterior Caudate	brain
22	chr2:64340400-64344400	Enhancers	Stomach Mucosa	stomach
23	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:64340600-64344000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:64340600-64344400	Enhancers	NHDF-Ad	bronchial
26	chr2:64340800-64344000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:64340800-64344200	Enhancers	Fetal Lung	lung
28	chr2:64341000-64344000	Enhancers	HepG2	liver
29	chr2:64341000-64344400	Enhancers	Adipose Nuclei	Adipose
30	chr2:64341000-64344400	Enhancers	Fetal Intestine Small	intestine
31	chr2:64341000-64344400	Enhancers	HMEC	breast
32	chr2:64341000-64344600	Enhancers	Fetal Intestine Large	intestine
33	chr2:64341200-64344000	Enhancers	Brain Angular Gyrus	brain
34	chr2:64341200-64344200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr2:64341200-64344200	Enhancers	Brain Hippocampus Middle	brain
36	chr2:64341200-64344400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:64341200-64345200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:64341400-64343600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:64341400-64343800	Flanking Active TSS	GM12878-XiMat	blood
40	chr2:64341400-64344200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:64341400-64344200	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:64341400-64344400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:64341600-64344000	Enhancers	Right Atrium	heart
44	chr2:64341600-64344200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:64341600-64344200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:64341600-64344400	Enhancers	Colonic Mucosa	Colon
47	chr2:64341600-64344400	Enhancers	Small Intestine	intestine
48	chr2:64341600-64344400	Enhancers	HUVEC	blood vessel
49	chr2:64341600-64344800	Enhancers	Brain Substantia Nigra	brain
50	chr2:64341800-64344000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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