Variant report

Variant	rs5994427
Chromosome Location	chr22:32132576-32132577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32128598-32137554..22:32764253-32784733	K562	blood:

Variant related genes	Relation type
ENSG00000205853	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000232218	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1012068	0.84[CEU][hapmap]
rs11089527	0.84[EUR][1000 genomes]
rs12165432	0.91[ASN][1000 genomes]
rs12171042	0.81[YRI][hapmap]
rs131225	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs131233	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs131244	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131245	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138289	0.83[YRI][hapmap]
rs140078	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs140081	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2108108	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28528942	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804087	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs5994420	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs5994431	0.94[CEU][hapmap];0.94[CHB][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes]
rs5998069	0.81[YRI][hapmap]
rs5998072	0.88[ASN][1000 genomes]
rs5998086	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs5998119	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5998121	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5998122	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5998126	0.90[EUR][1000 genomes]
rs5998131	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs5998136	0.94[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62238892	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7287937	0.81[YRI][hapmap]
rs7290856	0.94[CEU][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes]
rs760908	0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs761746	0.81[YRI][hapmap]
rs8141214	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9619234	0.86[EUR][1000 genomes]
rs9621327	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1060929	chr22:32102701-32176860	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers 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	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32112200-32142000	Weak transcription	Hela-S3	cervix
2	chr22:32112200-32145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32113200-32132600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:32113400-32143800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:32113600-32134800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:32113600-32142000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr22:32120600-32134200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:32120800-32134400	Weak transcription	Colonic Mucosa	Colon
9	chr22:32121000-32134000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:32121000-32144000	Weak transcription	Fetal Kidney	kidney
11	chr22:32121200-32143600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr22:32121200-32143600	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:32121400-32133400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr22:32121400-32134200	Weak transcription	HUVEC	blood vessel
15	chr22:32121400-32134400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:32121400-32134400	Weak transcription	Esophagus	oesophagus
17	chr22:32121400-32134400	Weak transcription	Ovary	ovary
18	chr22:32121400-32134400	Weak transcription	A549	lung
19	chr22:32121400-32134600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:32121400-32143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:32121600-32134400	Weak transcription	Fetal Brain Female	brain
22	chr22:32121600-32144000	Weak transcription	Brain Anterior Caudate	brain
23	chr22:32121600-32144000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:32121600-32144400	Weak transcription	HSMMtube	muscle
25	chr22:32121600-32144600	Weak transcription	Fetal Brain Male	brain
26	chr22:32122000-32140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:32123000-32134200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:32123200-32133800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr22:32123200-32134400	Weak transcription	Left Ventricle	heart
30	chr22:32123200-32134400	Weak transcription	Right Atrium	heart
31	chr22:32123200-32134600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr22:32123200-32144600	Weak transcription	Psoas Muscle	Psoas
33	chr22:32123200-32144800	Weak transcription	Right Ventricle	heart
34	chr22:32124200-32144600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:32124200-32144600	Weak transcription	Spleen	Spleen
36	chr22:32125200-32134000	Weak transcription	Brain Hippocampus Middle	brain
37	chr22:32125200-32134200	Weak transcription	K562	blood
38	chr22:32125200-32134400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:32125200-32143400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr22:32125200-32143800	Weak transcription	Brain Substantia Nigra	brain
41	chr22:32125200-32144600	Weak transcription	Brain Angular Gyrus	brain
42	chr22:32126000-32132600	Weak transcription	Adipose Nuclei	Adipose
43	chr22:32126000-32135800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr22:32126800-32135200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr22:32128200-32136000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr22:32128400-32139600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:32128400-32140800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:32128600-32141000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr22:32128600-32143600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr22:32128800-32138000	Weak transcription	GM12878-XiMat	blood

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