Variant report

Variant	rs116294067
Chromosome Location	chr22:30099995-30099996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30096975..30100180-chr22:30101896..30105574,4	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:67 , 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	chr22:30096400-30100600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:30096400-30100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:30096400-30101400	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr22:30096400-30103000	Enhancers	Brain Anterior Caudate	brain
10	chr22:30096400-30103200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:30096400-30103600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr22:30096400-30107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr22:30096600-30100400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr22:30096600-30102000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr22:30096600-30103800	Enhancers	Brain Cingulate Gyrus	brain
16	chr22:30096800-30100200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr22:30096800-30101400	Enhancers	A549	lung
18	chr22:30097000-30100000	Enhancers	Brain Angular Gyrus	brain
19	chr22:30097000-30102200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:30097000-30106400	Weak transcription	Psoas Muscle	Psoas
21	chr22:30097600-30101000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:30097800-30100400	Enhancers	Brain Substantia Nigra	brain
23	chr22:30098000-30100800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr22:30098000-30102800	Weak transcription	Esophagus	oesophagus
25	chr22:30098200-30100000	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr22:30098200-30101600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:30098400-30100000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
28	chr22:30098400-30100000	Enhancers	Primary B cells from cord blood	blood
29	chr22:30098400-30101000	Weak transcription	Pancreas	Pancrea
30	chr22:30098600-30100000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr22:30098600-30100000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:30098600-30100200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:30098800-30100000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr22:30098800-30100400	Weak transcription	NHLF	lung
35	chr22:30098800-30102400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:30098800-30115600	Weak transcription	Right Atrium	heart
37	chr22:30099000-30100000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:30099000-30102000	Enhancers	Fetal Lung	lung
39	chr22:30099200-30100000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr22:30099200-30100000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr22:30099200-30101600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:30099400-30100000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:30099400-30100000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr22:30099400-30100200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr22:30099400-30101000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr22:30099400-30103600	Enhancers	Brain Germinal Matrix	brain
47	chr22:30099600-30100000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr22:30099600-30100000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr22:30099600-30100000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr22:30099600-30100200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links