Variant report

Variant	rs2347996
Chromosome Location	chr22:29549797-29549798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29444708..29447348-chr22:29547700..29550186,2	K562	blood:
2	chr22:29547323..29550128-chr22:29627116..29629585,2	K562	blood:
3	chr22:29448833..29450694-chr22:29548349..29551156,2	K562	blood:
4	chr22:29547186..29550540-chr22:29600434..29604790,4	K562	blood:
5	chr22:29547025..29550393-chr22:29551126..29554117,6	K562	blood:
6	chr22:29507172..29508987-chr22:29549481..29552085,2	K562	blood:
7	chr22:29548237..29550039-chr22:29662388..29664914,2	K562	blood:
8	chr22:29490386..29492445-chr22:29548625..29550170,2	K562	blood:
9	chr22:29468094..29470256-chr22:29547375..29550121,2	K562	blood:
10	chr22:29442673..29444678-chr22:29547602..29550105,2	K562	blood:
11	chr22:29194920..29197276-chr22:29549664..29552289,2	MCF-7	breast:
12	chr22:29452982..29455388-chr22:29548922..29550730,2	K562	blood:
13	chr22:29277682..29280421-chr22:29547829..29550165,4	K562	blood:
14	chr22:29548200..29550640-chr22:29663832..29665499,3	K562	blood:
15	chr22:29549443..29550329-chr22:29641671..29642180,2	MCF-7	breast:
16	chr22:29277969..29280720-chr22:29548562..29550591,2	K562	blood:
17	chr22:29458794..29462861-chr22:29545928..29550252,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100263	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000183579	Chromatin interaction
ENSG00000186998	Chromatin interaction
ENSG00000182944	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000226772	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12628033	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12628352	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs132292	0.98[ASN][1000 genomes]
rs132296	0.98[ASN][1000 genomes]
rs132300	0.97[ASN][1000 genomes]
rs132304	0.84[ASN][1000 genomes]
rs2301445	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301446	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3884934	0.92[ASN][1000 genomes]
rs4035128	0.92[ASN][1000 genomes]
rs469983	0.98[ASN][1000 genomes]
rs4823016	0.92[ASN][1000 genomes]
rs4823018	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752871	0.97[ASN][1000 genomes]
rs5763006	0.98[ASN][1000 genomes]
rs5997447	0.87[ASN][1000 genomes]
rs9625722	0.92[ASN][1000 genomes]

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29542000-29550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:29542200-29550600	Weak transcription	Gastric	stomach
4	chr22:29543400-29550200	Weak transcription	Liver	Liver
5	chr22:29544200-29550000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr22:29544400-29550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:29544400-29550400	Weak transcription	Esophagus	oesophagus
8	chr22:29544800-29550800	Enhancers	Placenta	Placenta
9	chr22:29545400-29551000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:29545600-29550400	Weak transcription	Fetal Intestine Large	intestine
11	chr22:29545600-29550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:29545800-29549800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr22:29546000-29550400	Weak transcription	Aorta	Aorta
14	chr22:29546000-29550600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:29546200-29550000	Weak transcription	Dnd41	blood
16	chr22:29546200-29550200	Weak transcription	Fetal Heart	heart
17	chr22:29546200-29550400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr22:29546800-29550000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:29546800-29550200	Weak transcription	Brain Angular Gyrus	brain
20	chr22:29546800-29550200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr22:29546800-29550400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr22:29546800-29551000	Enhancers	Fetal Muscle Leg	muscle
23	chr22:29547000-29549800	Weak transcription	Thymus	Thymus
24	chr22:29547000-29550000	Weak transcription	Fetal Thymus	thymus
25	chr22:29547000-29550000	Weak transcription	HepG2	liver
26	chr22:29547000-29550200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:29547000-29550400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:29547000-29551000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr22:29547200-29550400	Weak transcription	Psoas Muscle	Psoas
30	chr22:29547400-29550000	Weak transcription	Brain Substantia Nigra	brain
31	chr22:29547400-29551000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:29548000-29549800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr22:29548000-29549800	Enhancers	Brain Germinal Matrix	brain
34	chr22:29548000-29550800	Enhancers	Spleen	Spleen
35	chr22:29548200-29550200	Weak transcription	Brain Anterior Caudate	brain
36	chr22:29548200-29550800	Enhancers	NHDF-Ad	bronchial
37	chr22:29548400-29550200	Enhancers	Primary hematopoietic stem cells	blood
38	chr22:29548400-29550200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr22:29548400-29550400	Weak transcription	Colonic Mucosa	Colon
40	chr22:29548400-29550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr22:29548600-29550000	Weak transcription	Colon Smooth Muscle	Colon
42	chr22:29548600-29550200	Weak transcription	Fetal Kidney	kidney
43	chr22:29548600-29550200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr22:29548600-29550400	Weak transcription	Lung	lung
45	chr22:29548600-29550600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr22:29548600-29550800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr22:29548800-29550200	Weak transcription	Fetal Brain Female	brain
48	chr22:29548800-29550200	Weak transcription	Fetal Intestine Small	intestine
49	chr22:29548800-29550600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr22:29548800-29552400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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