Variant report

Variant	rs139016848
Chromosome Location	chr22:30185114-30185115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30183374..30186087-chr22:30189628..30192258,4	MCF-7	breast:
2	chr22:30127476..30130014-chr22:30183535..30186061,2	MCF-7	breast:
3	chr22:30182549..30186689-chr22:30188373..30192437,4	K562	blood:
4	chr22:30181656..30186213-chr22:30190409..30196916,8	MCF-7	breast:
5	chr22:30183311..30186550-chr22:30186984..30189560,4	MCF-7	breast:
6	chr22:30182549..30185414-chr22:30188242..30189873,2	K562	blood:
7	chr22:30182004..30185271-chr22:30192660..30196046,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30164600-30188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:30167200-30187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr22:30167400-30185400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:30175400-30194000	Weak transcription	Hela-S3	cervix
6	chr22:30177000-30189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:30177200-30186000	Weak transcription	Fetal Kidney	kidney
8	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:30178400-30193000	Weak transcription	A549	lung
10	chr22:30178800-30186000	Weak transcription	K562	blood
11	chr22:30178800-30186000	Weak transcription	NH-A	brain
12	chr22:30179200-30185600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:30180200-30186800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr22:30180800-30187800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:30181200-30185400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:30181200-30188200	Weak transcription	Fetal Brain Male	brain
17	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
19	chr22:30181400-30185400	Weak transcription	NHDF-Ad	bronchial
20	chr22:30181400-30185600	Weak transcription	Psoas Muscle	Psoas
21	chr22:30182000-30194600	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr22:30182200-30194000	Strong transcription	Fetal Muscle Leg	muscle
23	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
24	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
25	chr22:30182400-30185200	Weak transcription	Fetal Lung	lung
26	chr22:30182400-30192800	Strong transcription	Brain Hippocampus Middle	brain
27	chr22:30182600-30194800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr22:30182800-30185800	Genic enhancers	Spleen	Spleen
29	chr22:30182800-30192000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr22:30182800-30192800	Strong transcription	Fetal Thymus	thymus
31	chr22:30182800-30194400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:30182800-30194600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:30182800-30194600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
36	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
37	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
38	chr22:30183000-30188600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr22:30183000-30189000	Strong transcription	HUVEC	blood vessel
40	chr22:30183000-30189800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr22:30183000-30191600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr22:30183000-30192600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr22:30183000-30192600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr22:30183000-30192800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr22:30183000-30193000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr22:30183000-30193000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr22:30183000-30193400	Strong transcription	Osteobl	bone
48	chr22:30183000-30194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:30183000-30194200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:30183000-30194200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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