Variant report

Variant	rs118046190
Chromosome Location	chr22:22025588-22025589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:22024800-22025608	K562	blood:	n/a	n/a
2	STAT5A	chr22:22025291-22025763	K562	blood:	n/a	n/a
3	POLR2A	chr22:22024852-22025689	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21994969..21997353-chr22:22024513..22026345,2	MCF-7	breast:
2	chr22:22022905..22026953-chr22:22292276..22294623,3	K562	blood:
3	chr22:22024787..22025715-chr22:22292164..22292828,2	K562	blood:

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000273342	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000128228	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
9	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
12	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
13	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
14	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr22:22021400-22025600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:22021400-22026200	Weak transcription	Fetal Kidney	kidney
3	chr22:22021400-22026400	Weak transcription	Psoas Muscle	Psoas
4	chr22:22021400-22032000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:22021400-22035200	Weak transcription	Stomach Mucosa	stomach
6	chr22:22021400-22036600	Weak transcription	A549	lung
7	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
8	chr22:22022200-22030600	Strong transcription	Fetal Stomach	stomach
9	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:22023400-22030600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:22023400-22030600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr22:22023400-22030600	Strong transcription	Fetal Muscle Leg	muscle
13	chr22:22023400-22030800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:22023400-22031000	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:22023400-22031200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr22:22023400-22032400	Strong transcription	Lung	lung
17	chr22:22023400-22034000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:22023600-22026200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr22:22023600-22026200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr22:22023600-22028400	Strong transcription	HepG2	liver
21	chr22:22023600-22029400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:22023600-22030000	Strong transcription	Fetal Thymus	thymus
23	chr22:22023600-22030400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr22:22023600-22030400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:22023600-22030400	Strong transcription	Primary B cells from cord blood	blood
26	chr22:22023600-22030400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
27	chr22:22023600-22030400	Strong transcription	Brain Cingulate Gyrus	brain
28	chr22:22023600-22030600	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr22:22023600-22030600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:22023600-22030600	Strong transcription	Adipose Nuclei	Adipose
31	chr22:22023600-22030600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr22:22023600-22030600	Strong transcription	Rectal Smooth Muscle	rectum
33	chr22:22023600-22030600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:22023600-22030600	Strong transcription	K562	blood
35	chr22:22023600-22030800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr22:22023600-22032600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr22:22023600-22032600	Strong transcription	Thymus	Thymus
38	chr22:22023600-22032800	Strong transcription	Spleen	Spleen
39	chr22:22023800-22030400	Strong transcription	Brain Germinal Matrix	brain
40	chr22:22023800-22030600	Strong transcription	Primary T cells from cord blood	blood
41	chr22:22023800-22030600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr22:22023800-22030600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:22023800-22030600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr22:22023800-22030800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr22:22023800-22030800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr22:22023800-22030800	Strong transcription	Ovary	ovary
47	chr22:22024000-22027400	Genic enhancers	GM12878-XiMat	blood
48	chr22:22024000-22029400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:22024000-22029400	Strong transcription	HSMM	muscle
50	chr22:22024000-22029600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links