Variant report

Variant	rs544993481
Chromosome Location	chr22:30100990-30100991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30097362..30099278-chr22:30100636..30102663,2	K562	blood:
2	chr22:30091150..30094109-chr22:30098424..30101093,2	K562	blood:
3	chr22:30098350..30101826-chr22:30195223..30196896,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv529737	chr22:30060946-30109561	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv914965	chr22:30086144-30112226	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv3407139	chr22:30099177-30101725	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3326651	chr22:30099502-30101425	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3372851	chr22:30099802-30101000	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30095800-30101400	Enhancers	HSMMtube	muscle
2	chr22:30095800-30101600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr22:30095800-30103000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr22:30096000-30103600	Enhancers	Fetal Brain Male	brain
5	chr22:30096200-30103200	Enhancers	Fetal Brain Female	brain
6	chr22:30096400-30101400	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr22:30096400-30103000	Enhancers	Brain Anterior Caudate	brain
8	chr22:30096400-30103200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:30096400-30103600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr22:30096400-30107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr22:30096600-30102000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr22:30096600-30103800	Enhancers	Brain Cingulate Gyrus	brain
13	chr22:30096800-30101400	Enhancers	A549	lung
14	chr22:30097000-30102200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:30097000-30106400	Weak transcription	Psoas Muscle	Psoas
16	chr22:30097600-30101000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:30098000-30102800	Weak transcription	Esophagus	oesophagus
18	chr22:30098200-30101600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:30098400-30101000	Weak transcription	Pancreas	Pancrea
20	chr22:30098800-30102400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:30098800-30115600	Weak transcription	Right Atrium	heart
22	chr22:30099000-30102000	Enhancers	Fetal Lung	lung
23	chr22:30099200-30101600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:30099400-30101000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr22:30099400-30103600	Enhancers	Brain Germinal Matrix	brain
26	chr22:30099600-30101000	Enhancers	NH-A	brain
27	chr22:30099600-30101800	Bivalent Enhancer	Fetal Stomach	stomach
28	chr22:30099600-30103200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr22:30099600-30103400	Enhancers	Gastric	stomach
30	chr22:30099800-30101000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:30099800-30101000	Weak transcription	Spleen	Spleen
32	chr22:30099800-30102200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr22:30099800-30103000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:30100000-30101000	Weak transcription	Brain Angular Gyrus	brain
35	chr22:30100000-30101400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr22:30100000-30101400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:30100000-30103200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:30100200-30101400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr22:30100200-30101400	Enhancers	Lung	lung
40	chr22:30100200-30102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:30100200-30103200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:30100400-30101000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr22:30100400-30101200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:30100400-30101200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr22:30100400-30101200	Enhancers	NHLF	lung
46	chr22:30100400-30101800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr22:30100400-30102200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr22:30100600-30101000	Enhancers	Osteobl	bone
49	chr22:30100600-30101200	Enhancers	Duodenum Mucosa	Duodenum
50	chr22:30100600-30101200	Flanking Active TSS	HepG2	liver

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