Variant report

Variant	rs5997817
Chromosome Location	chr22:31345317-31345318
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31343088..31345348-chr22:31346142..31349284,4	K562	blood:
2	chr22:31344139..31345750-chr22:31542984..31544956,2	MCF-7	breast:
3	chr22:31344261..31347323-chr22:31363987..31366940,5	MCF-7	breast:
4	chr22:31343491..31346033-chr22:31351979..31353784,2	MCF-7	breast:
5	chr22:31342475..31345914-chr22:31476419..31478627,3	K562	blood:
6	chr22:31332505..31335133-chr22:31343760..31346599,2	MCF-7	breast:
7	chr22:31342529..31345379-chr22:31554367..31556150,2	MCF-7	breast:
8	chr22:31344983..31347156-chr22:31357746..31359920,2	K562	blood:
9	chr22:31341681..31345619-chr22:31363146..31367064,6	MCF-7	breast:
10	chr22:31342917..31345696-chr22:31477294..31478831,2	MCF-7	breast:
11	chr22:31340457..31342974-chr22:31344141..31346217,2	K562	blood:
12	chr22:31341646..31347156-chr22:31356738..31361617,7	K562	blood:
13	chr22:31345220..31348145-chr22:31348354..31350638,2	K562	blood:
14	chr22:31340062..31346727-chr22:31479237..31484130,8	MCF-7	breast:
15	chr22:31339986..31349104-chr22:31474916..31484317,23	MCF-7	breast:
16	chr22:31343895..31346502-chr22:31364068..31366105,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253352	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000264141	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12158241	1.00[AMR][1000 genomes]
rs12158547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12159387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160446	1.00[AMR][1000 genomes]
rs12160613	1.00[AMR][1000 genomes]
rs12161052	1.00[AMR][1000 genomes]
rs13056417	1.00[AMR][1000 genomes]
rs5994354	1.00[AMR][1000 genomes]
rs5994355	1.00[AMR][1000 genomes]
rs5994359	1.00[AMR][1000 genomes]
rs5994361	1.00[AMR][1000 genomes]
rs5997801	1.00[AMR][1000 genomes]
rs5997804	1.00[AMR][1000 genomes]
rs5997805	1.00[AMR][1000 genomes]
rs5997809	1.00[AMR][1000 genomes]
rs5997813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997814	1.00[AMR][1000 genomes]
rs5997815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997816	1.00[AMR][1000 genomes]
rs5997819	1.00[AMR][1000 genomes]
rs5997825	1.00[AMR][1000 genomes]
rs5997826	1.00[AMR][1000 genomes]
rs5997827	1.00[AMR][1000 genomes]
rs5997828	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 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	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31319200-31347400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:31319200-31350800	Strong transcription	Brain Germinal Matrix	brain
4	chr22:31319200-31351800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:31319800-31353200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:31319800-31355800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:31320000-31354600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:31320000-31355600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:31320200-31353400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:31320200-31354800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr22:31320200-31355600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr22:31320200-31355800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:31320600-31347400	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:31320600-31347800	Strong transcription	Liver	Liver
15	chr22:31320600-31354400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:31320600-31354400	Strong transcription	HepG2	liver
17	chr22:31320800-31347000	Strong transcription	NH-A	brain
18	chr22:31320800-31352600	Strong transcription	Fetal Thymus	thymus
19	chr22:31321000-31352800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:31321000-31353400	Strong transcription	Fetal Intestine Large	intestine
21	chr22:31321200-31350000	Strong transcription	Fetal Lung	lung
22	chr22:31324800-31360400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:31325600-31351600	Strong transcription	Fetal Brain Female	brain
24	chr22:31326200-31346000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:31326200-31347400	Strong transcription	NHLF	lung
26	chr22:31326200-31349600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr22:31326200-31351800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr22:31326800-31347600	Strong transcription	Fetal Kidney	kidney
29	chr22:31328200-31351000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:31332000-31347600	Strong transcription	Fetal Brain Male	brain
31	chr22:31337200-31352800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr22:31337400-31347400	Strong transcription	Lung	lung
33	chr22:31337800-31347600	Strong transcription	Spleen	Spleen
34	chr22:31338400-31346600	Strong transcription	Hela-S3	cervix
35	chr22:31338400-31351600	Weak transcription	Stomach Mucosa	stomach
36	chr22:31339200-31349200	Strong transcription	K562	blood
37	chr22:31339400-31347400	Strong transcription	Thymus	Thymus
38	chr22:31339800-31347800	Strong transcription	GM12878-XiMat	blood
39	chr22:31339800-31349400	Strong transcription	Dnd41	blood
40	chr22:31340000-31351000	Strong transcription	Primary B cells from cord blood	blood
41	chr22:31340200-31345600	Genic enhancers	Primary T cells from cord blood	blood
42	chr22:31340200-31346200	Strong transcription	A549	lung
43	chr22:31340200-31347200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:31340200-31347600	Strong transcription	Pancreas	Pancrea
45	chr22:31340200-31352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:31340400-31347000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:31340400-31353400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:31340600-31346000	Genic enhancers	HSMMtube	muscle
49	chr22:31340600-31346800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:31340600-31347400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood

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