Variant report

Variant	rs34466347
Chromosome Location	chr22:30440861-30440862
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30431981..30436228-chr22:30436988..30442132,5	MCF-7	breast:
2	chr22:30438959..30441360-chr22:30444490..30446436,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv964619	chr22:30440663-30444496	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:30424800-30443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:30425800-30442000	Weak transcription	Fetal Brain Female	brain
4	chr22:30426600-30443000	Weak transcription	Thymus	Thymus
5	chr22:30430200-30442800	Weak transcription	Spleen	Spleen
6	chr22:30430200-30449600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:30435000-30450600	Weak transcription	Gastric	stomach
8	chr22:30437000-30443400	Weak transcription	Esophagus	oesophagus
9	chr22:30438200-30448200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:30438800-30441000	Enhancers	HUVEC	blood vessel
11	chr22:30438800-30441800	Enhancers	Fetal Intestine Large	intestine
12	chr22:30439200-30441200	Enhancers	NHDF-Ad	bronchial
13	chr22:30439200-30441400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:30439200-30441400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr22:30439400-30441600	Enhancers	Duodenum Mucosa	Duodenum
16	chr22:30439400-30441800	Enhancers	Fetal Intestine Small	intestine
17	chr22:30439600-30441000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:30439600-30441000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:30439600-30441000	Enhancers	HMEC	breast
20	chr22:30439600-30441000	Enhancers	NH-A	brain
21	chr22:30439600-30441000	Enhancers	NHLF	lung
22	chr22:30439600-30441200	Enhancers	NHEK	skin
23	chr22:30439600-30441400	Enhancers	Adipose Nuclei	Adipose
24	chr22:30439600-30442200	Enhancers	Stomach Mucosa	stomach
25	chr22:30439800-30441000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:30439800-30441000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:30439800-30441000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:30439800-30441000	Enhancers	HSMM	muscle
29	chr22:30439800-30441000	Enhancers	Osteobl	bone
30	chr22:30439800-30441200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:30439800-30441200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:30439800-30441200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr22:30439800-30441600	Enhancers	Pancreas	Pancrea
34	chr22:30440000-30441000	Enhancers	Fetal Lung	lung
35	chr22:30440000-30441200	Enhancers	HSMMtube	muscle
36	chr22:30440200-30441200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:30440200-30441200	Weak transcription	Fetal Muscle Leg	muscle
38	chr22:30440400-30441000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:30440400-30441000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr22:30440400-30441000	Bivalent Enhancer	Fetal Kidney	kidney
41	chr22:30440400-30441200	Enhancers	Liver	Liver
42	chr22:30440400-30441600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:30440600-30441000	Enhancers	Small Intestine	intestine
44	chr22:30440600-30441200	Enhancers	Colonic Mucosa	Colon
45	chr22:30440600-30441400	Enhancers	Lung	lung
46	chr22:30440600-30441400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr22:30440600-30442800	Weak transcription	HepG2	liver
48	chr22:30440800-30441000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:30440800-30441400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:30440800-30441800	Enhancers	Fetal Stomach	stomach

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