Variant report

Variant	rs5998173
Chromosome Location	chr22:32305971-32305972
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:31836635-31847259..22:32304711-32312886	K562	blood:
2	22:32012966-32043914..22:32304711-32312886	K562	blood:
3	chr22:32295951..32297894-chr22:32305231..32307737,2	K562	blood:
4	22:31803954-31807204..22:32304711-32312886	K562	blood:
5	22:32053085-32061138..22:32304711-32312886	GM12878	blood:
6	22:32304711-32312886..22:32764253-32784733	K562	blood:
7	22:32162110-32166713..22:32304711-32312886	GM12878	blood:
8	22:32304711-32312886..22:33262063-33266567	K562	blood:
9	22:31978142-31983723..22:32304711-32312886	K562	blood:
10	22:32292186-32294405..22:32304711-32312886	K562	blood:
11	22:31864703-31891033..22:32304711-32312886	K562	blood:
12	22:32170492-32188129..22:32304711-32312886	K562	blood:
13	22:32264718-32278135..22:32304711-32312886	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205853	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000243519	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1012068	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11703040	1.00[JPT][hapmap]
rs11703779	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2015580	0.85[ASN][1000 genomes]
rs4820994	0.90[ASN][1000 genomes]
rs4820996	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4820998	0.93[ASN][1000 genomes]
rs5753816	0.93[ASN][1000 genomes]
rs5753818	0.93[ASN][1000 genomes]
rs5994441	0.89[EUR][1000 genomes]
rs5994442	0.87[AFR][1000 genomes]
rs5994449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994451	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs5998114	1.00[JPT][hapmap]
rs5998140	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5998152	0.92[AMR][1000 genomes]
rs5998168	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs5998176	0.93[ASN][1000 genomes]
rs7287054	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32242400-32313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:32247600-32307400	Weak transcription	Hela-S3	cervix
3	chr22:32268000-32308000	Weak transcription	A549	lung
4	chr22:32274000-32306600	Strong transcription	Primary B cells from peripheral blood	blood
5	chr22:32274400-32306600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr22:32276000-32315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:32281000-32314800	Weak transcription	Right Atrium	heart
8	chr22:32288000-32307800	Weak transcription	NH-A	brain
9	chr22:32288200-32308800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:32291400-32308200	Strong transcription	Fetal Stomach	stomach
11	chr22:32292200-32307400	Weak transcription	Osteobl	bone
12	chr22:32293800-32308000	Weak transcription	Small Intestine	intestine
13	chr22:32294200-32308600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr22:32294800-32307000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:32295000-32307600	Weak transcription	NHDF-Ad	bronchial
16	chr22:32295800-32314600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:32297000-32306800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:32297000-32307600	Strong transcription	Liver	Liver
19	chr22:32297200-32306800	Strong transcription	Primary T cells from cord blood	blood
20	chr22:32297400-32306600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:32297400-32306800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr22:32297400-32306800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr22:32297400-32307800	Strong transcription	Fetal Muscle Leg	muscle
24	chr22:32297400-32308200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:32297800-32314800	Weak transcription	Brain Substantia Nigra	brain
26	chr22:32298000-32311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:32298200-32306800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:32298200-32314400	Weak transcription	Fetal Brain Male	brain
29	chr22:32298800-32306800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:32298800-32307400	Strong transcription	Fetal Intestine Small	intestine
31	chr22:32298800-32308200	Weak transcription	NHLF	lung
32	chr22:32299000-32308000	Weak transcription	HSMM	muscle
33	chr22:32299200-32307400	Weak transcription	Stomach Mucosa	stomach
34	chr22:32299200-32308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:32299200-32309000	Weak transcription	Fetal Kidney	kidney
36	chr22:32299400-32313000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr22:32300200-32308000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:32300200-32310200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:32300200-32314600	Weak transcription	Psoas Muscle	Psoas
40	chr22:32300600-32306800	Strong transcription	Ovary	ovary
41	chr22:32302000-32324800	Weak transcription	Fetal Thymus	thymus
42	chr22:32302400-32306000	Weak transcription	GM12878-XiMat	blood
43	chr22:32302400-32322600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:32302600-32306800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr22:32302800-32309200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr22:32302800-32313200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr22:32303000-32307800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:32303000-32308000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:32303000-32310200	Weak transcription	Placenta	Placenta
50	chr22:32303000-32311400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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