Variant report

Variant	rs5998066
Chromosome Location	chr22:32042345-32042346
allele	C/G
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	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	chr22:32041168..32045614-chr22:32055759..32058889,4	MCF-7	breast:
4	chr22:32026042..32027602-chr22:32041118..32042734,2	MCF-7	breast:
5	22:32012966-32043914..22:32513817-32522138	K562	blood:
6	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
7	22:32012966-32043914..22:32665993-32670527	K562	blood:
8	chr22:31891416..31894088-chr22:32041423..32044046,2	MCF-7	breast:
9	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
10	22:32012966-32043914..22:32529813-32538538	K562	blood:
11	22:32012966-32043914..22:32846948-32860159	K562	blood:
12	chr22:31742698..31744788-chr22:32041656..32043899,2	MCF-7	breast:
13	22:32012966-32043914..22:32360288-32405313	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000224050	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1013703	1.00[CHB][hapmap]
rs1076674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11703040	1.00[CHB][hapmap]
rs11703079	1.00[CHB][hapmap];0.94[AMR][1000 genomes]
rs11703102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703104	1.00[CHB][hapmap]
rs11703232	1.00[CHB][hapmap]
rs11703275	1.00[CHB][hapmap]
rs11703798	0.90[AMR][1000 genomes]
rs11704129	1.00[CHB][hapmap]
rs11705235	1.00[CHB][hapmap]
rs11705329	1.00[CHB][hapmap]
rs12157427	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12158002	1.00[CHB][hapmap];0.94[AMR][1000 genomes]
rs12159673	1.00[CHB][hapmap]
rs12160120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12160737	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12166848	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131222	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs131224	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs131226	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs131228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs131235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs131237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs131243	1.00[CHB][hapmap]
rs131246	1.00[CHB][hapmap]
rs131252	1.00[CHB][hapmap]
rs131254	1.00[CHB][hapmap]
rs140079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16989374	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs16989529	1.00[CHB][hapmap]
rs2009893	0.80[AFR][1000 genomes]
rs2040981	1.00[CHB][hapmap]
rs2413058	0.82[CEU][hapmap]
rs3804088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56406828	0.94[AMR][1000 genomes]
rs5753753	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5994417	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs5994424	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998063	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5998064	0.90[AMR][1000 genomes]
rs5998065	0.92[AMR][1000 genomes]
rs5998068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998070	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998081	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998082	0.84[AMR][1000 genomes]
rs5998084	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5998089	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998091	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998093	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998095	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998103	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998114	1.00[CHB][hapmap]
rs5998133	1.00[CHB][hapmap]
rs5998134	1.00[CHB][hapmap]
rs5998135	1.00[CHB][hapmap]
rs60209974	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60669705	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62239167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62239185	0.84[AMR][1000 genomes]
rs62239186	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62239187	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62239188	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62240684	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62240686	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62240687	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7289259	1.00[CHB][hapmap]
rs740227	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8136047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8141719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8143084	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs81946	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9619215	0.87[YRI][hapmap]
rs9619217	0.92[YRI][hapmap]
rs9619221	0.92[AMR][1000 genomes]
rs9619222	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9619224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9621307	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621316	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 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	chr22:32027200-32042400	Weak transcription	A549	lung
2	chr22:32027200-32042600	Weak transcription	Thymus	Thymus
3	chr22:32027200-32043400	Weak transcription	Aorta	Aorta
4	chr22:32027400-32042800	Weak transcription	Fetal Lung	lung
5	chr22:32027600-32043200	Weak transcription	HSMMtube	muscle
6	chr22:32027600-32044800	Weak transcription	Small Intestine	intestine
7	chr22:32027800-32042400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:32027800-32042600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:32027800-32042600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:32027800-32042800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:32027800-32043200	Weak transcription	Colon Smooth Muscle	Colon
12	chr22:32027800-32043800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:32028000-32043200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:32028400-32043200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:32032200-32046000	Weak transcription	Pancreas	Pancrea
16	chr22:32033800-32042800	Weak transcription	Brain Substantia Nigra	brain
17	chr22:32034200-32042600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:32034400-32042600	Weak transcription	Brain Angular Gyrus	brain
19	chr22:32034400-32043000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:32034400-32043200	Weak transcription	Gastric	stomach
21	chr22:32034400-32043600	Weak transcription	Right Ventricle	heart
22	chr22:32034400-32056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:32034600-32042400	Weak transcription	Fetal Heart	heart
24	chr22:32035800-32046800	Strong transcription	Fetal Stomach	stomach
25	chr22:32036000-32042800	Weak transcription	Spleen	Spleen
26	chr22:32036000-32043000	Weak transcription	Fetal Kidney	kidney
27	chr22:32036200-32042400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr22:32036200-32043000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr22:32036400-32043600	Weak transcription	Stomach Mucosa	stomach
30	chr22:32036400-32050000	Weak transcription	Esophagus	oesophagus
31	chr22:32036400-32056400	Weak transcription	Colonic Mucosa	Colon
32	chr22:32037400-32046200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr22:32037400-32046800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr22:32037600-32043000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr22:32037600-32048400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:32037600-32050000	Weak transcription	Psoas Muscle	Psoas
37	chr22:32038000-32043600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:32038000-32046600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr22:32039200-32046400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:32039400-32042400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:32039400-32042400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr22:32039800-32046400	Genic enhancers	Placenta	Placenta
43	chr22:32040200-32043600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:32040400-32042800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:32040400-32047200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr22:32040600-32042800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr22:32040600-32042800	Strong transcription	Fetal Thymus	thymus
48	chr22:32040600-32044400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr22:32040600-32044600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:32040600-32046000	Strong transcription	Dnd41	blood

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