Variant report

Variant	rs138834416
Chromosome Location	chr22:30661690-30661691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
2	chr22:30660277..30662001-chr22:30780639..30782477,2	MCF-7	breast:
3	chr22:30660837..30662614-chr22:30683520..30685637,2	MCF-7	breast:
4	chr22:30659097..30662032-chr22:30782521..30784593,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239282	Chromatin interaction
ENSG00000099999	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30656200-30662000	Enhancers	Primary hematopoietic stem cells	blood
2	chr22:30656800-30661800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr22:30658200-30665200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr22:30659400-30661800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:30659400-30662000	Weak transcription	Liver	Liver
6	chr22:30659400-30662000	Weak transcription	Brain Anterior Caudate	brain
7	chr22:30659400-30662000	Weak transcription	Brain Hippocampus Middle	brain
8	chr22:30659400-30662000	Weak transcription	Fetal Intestine Large	intestine
9	chr22:30659400-30662200	Weak transcription	Brain Substantia Nigra	brain
10	chr22:30659400-30662600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:30659400-30663200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:30659600-30661800	Weak transcription	Colonic Mucosa	Colon
13	chr22:30659600-30661800	Weak transcription	Esophagus	oesophagus
14	chr22:30659600-30662000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:30659600-30662000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr22:30659600-30662200	Weak transcription	Pancreas	Pancrea
17	chr22:30659600-30663000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:30659600-30673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:30659800-30662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:30659800-30662400	Weak transcription	Fetal Intestine Small	intestine
21	chr22:30660000-30662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:30660600-30661800	Weak transcription	Gastric	stomach
23	chr22:30660800-30661800	Enhancers	Fetal Thymus	thymus
24	chr22:30660800-30662000	Enhancers	Spleen	Spleen
25	chr22:30661000-30664600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:30661200-30661800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr22:30661200-30661800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:30661200-30662000	Enhancers	Duodenum Mucosa	Duodenum
29	chr22:30661200-30662000	Enhancers	Placenta	Placenta
30	chr22:30661200-30662400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr22:30661200-30662600	Enhancers	A549	lung
32	chr22:30661200-30663400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:30661200-30664000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr22:30661200-30664200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr22:30661200-30664400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr22:30661400-30661800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr22:30661400-30661800	Enhancers	GM12878-XiMat	blood
38	chr22:30661400-30662000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:30661400-30662000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:30661400-30662000	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr22:30661400-30662000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:30661400-30662200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr22:30661400-30662400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:30661400-30662800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr22:30661400-30663800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr22:30661400-30663800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr22:30661400-30664000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:30661400-30664400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:30661600-30661800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr22:30661600-30661800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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