Variant report

Variant	rs4035128
Chromosome Location	chr22:29549520-29549521
allele	A/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	chr22:29488253..29490159-chr22:29547499..29549684,2	K562	blood:
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
ENSG00000186998	Chromatin interaction
ENSG00000183579	Chromatin interaction
ENSG00000182944	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000226772	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12628033	0.91[ASN][1000 genomes]
rs12628352	0.91[ASN][1000 genomes]
rs132292	0.91[ASN][1000 genomes]
rs132296	0.91[ASN][1000 genomes]
rs132300	0.89[ASN][1000 genomes]
rs132304	0.92[ASN][1000 genomes]
rs2301445	0.92[ASN][1000 genomes]
rs2301446	0.92[ASN][1000 genomes]
rs2347996	0.92[ASN][1000 genomes]
rs3884934	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469983	0.91[ASN][1000 genomes]
rs4823016	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823018	0.91[ASN][1000 genomes]
rs5752871	0.89[ASN][1000 genomes]
rs5763006	0.91[ASN][1000 genomes]
rs9625722	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:87 , 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	chr22:29545800-29549600	Enhancers	Fetal Muscle Trunk	muscle
13	chr22:29545800-29549800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr22:29546000-29550400	Weak transcription	Aorta	Aorta
15	chr22:29546000-29550600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr22:29546200-29550000	Weak transcription	Dnd41	blood
17	chr22:29546200-29550200	Weak transcription	Fetal Heart	heart
18	chr22:29546200-29550400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr22:29546800-29550000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:29546800-29550200	Weak transcription	Brain Angular Gyrus	brain
21	chr22:29546800-29550200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr22:29546800-29550400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr22:29546800-29551000	Enhancers	Fetal Muscle Leg	muscle
24	chr22:29547000-29549800	Weak transcription	Thymus	Thymus
25	chr22:29547000-29550000	Weak transcription	Fetal Thymus	thymus
26	chr22:29547000-29550000	Weak transcription	HepG2	liver
27	chr22:29547000-29550200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:29547000-29550400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:29547000-29551000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr22:29547200-29550400	Weak transcription	Psoas Muscle	Psoas
31	chr22:29547400-29549600	Enhancers	Fetal Stomach	stomach
32	chr22:29547400-29550000	Weak transcription	Brain Substantia Nigra	brain
33	chr22:29547400-29551000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:29548000-29549600	Enhancers	Duodenum Mucosa	Duodenum
35	chr22:29548000-29549600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:29548000-29549800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:29548000-29549800	Enhancers	Brain Germinal Matrix	brain
38	chr22:29548000-29550800	Enhancers	Spleen	Spleen
39	chr22:29548200-29549600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr22:29548200-29550200	Weak transcription	Brain Anterior Caudate	brain
41	chr22:29548200-29550800	Enhancers	NHDF-Ad	bronchial
42	chr22:29548400-29549600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:29548400-29550200	Enhancers	Primary hematopoietic stem cells	blood
44	chr22:29548400-29550200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr22:29548400-29550400	Weak transcription	Colonic Mucosa	Colon
46	chr22:29548400-29550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr22:29548600-29550000	Weak transcription	Colon Smooth Muscle	Colon
48	chr22:29548600-29550200	Weak transcription	Fetal Kidney	kidney
49	chr22:29548600-29550200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr22:29548600-29550400	Weak transcription	Lung	lung

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