Variant report

Variant	rs527994940
Chromosome Location	chr10:22628867-22628868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22290966..22293742-chr10:22628058..22631636,3	MCF-7	breast:
2	chr10:22603818..22606688-chr10:22628346..22630666,3	MCF-7	breast:
3	chr10:22628552..22630846-chr8:144350757..144353211,2	MCF-7	breast:
4	chr10:22625398..22631647-chr10:22676300..22682265,8	K562	blood:
5	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
6	chr10:22626594..22629455-chr10:22675560..22678506,3	K562	blood:
7	chr10:22628696..22632444-chr10:22679412..22682265,6	K562	blood:

Variant related genes	Relation type
ENSG00000136770	Chromatin interaction
ENSG00000168283	Chromatin interaction
ENSG00000148444	Chromatin interaction
ENSG00000250571	Chromatin interaction
ENSG00000269897	Chromatin interaction
ENSG00000077327	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825292	chr10:22560347-22642200	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv825293	chr10:22575226-22637618	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825294	chr10:22590627-22644910	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv825295	chr10:22591275-22643207	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv825296	chr10:22591339-22638994	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv894950	chr10:22591830-22639903	Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv894955	chr10:22594765-22631256	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv894956	chr10:22594765-22633193	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv894957	chr10:22594765-22637381	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv1816646	chr10:22594765-22639707	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv894958	chr10:22594765-22639903	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv825297	chr10:22596793-22637576	Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv825299	chr10:22596793-22638994	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv550207	chr10:22605112-22631256	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3512115	chr10:22628355-22629590	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	esv3512116	chr10:22628355-22629590	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr10:22626200-22629000	Weak transcription	Right Ventricle	heart
2	chr10:22626200-22629200	Weak transcription	Pancreas	Pancrea
3	chr10:22627600-22629000	Weak transcription	Aorta	Aorta
4	chr10:22628400-22629200	Flanking Active TSS	Dnd41	blood
5	chr10:22628600-22629000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:22628600-22629000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr10:22628600-22629000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr10:22628600-22629000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
9	chr10:22628600-22629200	Flanking Active TSS	GM12878-XiMat	blood
10	chr10:22628600-22629200	Flanking Active TSS	K562	blood
11	chr10:22628800-22629000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:22628800-22629000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:22628800-22629000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr10:22628800-22629000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:22628800-22629000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:22628800-22629000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:22628800-22629000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr10:22628800-22629000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr10:22628800-22629000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:22628800-22629000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr10:22628800-22629000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:22628800-22629000	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr10:22628800-22629000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
24	chr10:22628800-22629000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr10:22628800-22629000	Bivalent/Poised TSS	Fetal Brain Male	brain
26	chr10:22628800-22629000	Bivalent Enhancer	Fetal Brain Female	brain
27	chr10:22628800-22629000	Bivalent Enhancer	Fetal Heart	heart
28	chr10:22628800-22629000	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr10:22628800-22629000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
30	chr10:22628800-22629000	Bivalent Enhancer	Fetal Stomach	stomach
31	chr10:22628800-22629000	Bivalent Enhancer	Fetal Thymus	thymus
32	chr10:22628800-22629000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr10:22628800-22629000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr10:22628800-22629000	Flanking Active TSS	A549	lung
35	chr10:22628800-22629000	Flanking Active TSS	Hela-S3	cervix
36	chr10:22628800-22629000	Bivalent Enhancer	NHLF	lung
37	chr10:22628800-22629200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:22628800-22629200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:22628800-22629200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr10:22628800-22629200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr10:22628800-22629200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:22628800-22629200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr10:22628800-22629200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr10:22628800-22629200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr10:22628800-22629200	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr10:22628800-22629200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
47	chr10:22628800-22629200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:22628800-22629200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr10:22628800-22629200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:22628800-22629200	Flanking Active TSS	Adipose Nuclei	Adipose

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