Variant report

Variant	rs16985114
Chromosome Location	chr22:32026644-32026645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:292)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr22:32026387-32026919	MCF10A-Er-Src	breast:	n/a	chr22:32026901-32026911
2	POLR2A	chr22:32025498-32027407	GM19099	blood:	n/a	n/a
3	MAX	chr22:32026191-32027309	HCT-116	colon:	n/a	chr22:32027239-32027254 chr22:32027241-32027250 chr22:32027242-32027249 chr22:32026861-32026871
4	POLR2A	chr22:32026229-32027410	K562	blood:	n/a	n/a
5	HEY1	chr22:32026519-32027020	HepG2	liver:	n/a	n/a
6	FOXP2	chr22:32026189-32026817	PFSK-1	brain:	n/a	n/a
7	STAT3	chr22:32026320-32026992	MCF10A-Er-Src	breast:	n/a	n/a
8	MXI1	chr22:32026343-32027299	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:32026251-32027087	K562	blood:	n/a	n/a
10	PAX5	chr22:32026281-32026951	GM12892	blood:	n/a	n/a
11	MAX	chr22:32026382-32027193	GM12878	blood:	n/a	chr22:32026861-32026871
12	POLR2A	chr22:32026573-32026921	U87	brain:	n/a	n/a
13	E2F6	chr22:32026319-32027266	K562	blood:	n/a	chr22:32026936-32026946 chr22:32026901-32026911
14	MYC	chr22:32026322-32026752	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr22:32026595-32026674	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:32026296-32027230	K562	blood:	n/a	n/a
17	HCFC1	chr22:32026161-32027258	K562	blood:	n/a	n/a
18	TCF12	chr22:32025987-32027187	ECC-1	luminal epithelium:	n/a	chr22:32026904-32026914
19	ZNF384	chr22:32026396-32027114	K562	blood:	n/a	n/a
20	GABPA	chr22:32025873-32027090	MCF-7	breast:	n/a	chr22:32026861-32026870
21	STAT3	chr22:32026376-32026936	MCF10A-Er-Src	breast:	n/a	n/a
22	CTCF	chr22:32026640-32026790	GM12874	blood:	n/a	n/a
23	FOXM1	chr22:32026317-32026838	GM12878	blood:	n/a	n/a
24	GABPA	chr22:32026424-32026863	A549	lung:	n/a	n/a
25	POLR2A	chr22:32025999-32027331	Hela-S3	cervix:	n/a	n/a
26	ZEB1	chr22:32026324-32027025	GM12878	blood:	n/a	n/a
27	ETS1	chr22:32026229-32026802	GM12878	blood:	n/a	n/a
28	PAX5	chr22:32026367-32026690	GM12878	blood:	n/a	n/a
29	CREB1	chr22:32026178-32026931	GM12878	blood:	n/a	n/a
30	POLR2A	chr22:32026020-32027099	U87	brain:	n/a	n/a
31	POLR2A	chr22:32026322-32027560	HepG2	liver:	n/a	n/a
32	NFYB	chr22:32026578-32027000	K562	blood:	n/a	n/a
33	POLR2A	chr22:32024886-32027721	GM12892	blood:	n/a	n/a
34	GABPA	chr22:32026133-32027035	K562	blood:	n/a	chr22:32026861-32026870
35	POLR2A	chr22:32024978-32027408	GM12878	blood:	n/a	n/a
36	CTCF	chr22:32026515-32027025	K562	blood:	n/a	n/a
37	RELA	chr22:32026335-32027047	GM19193	blood:	n/a	n/a
38	TCF12	chr22:32026534-32026805	GM12878	blood:	n/a	n/a
39	POLR2A	chr22:32026229-32026923	A549	lung:	n/a	n/a
40	POLR2A	chr22:32025198-32027926	HUVEC	blood vessel:	n/a	n/a
41	ZBTB7A	chr22:32026246-32027305	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr22:32026228-32027625	GM12878	blood:	n/a	n/a
43	RCOR1	chr22:32026428-32027057	HepG2	liver:	n/a	n/a
44	POLR2A	chr22:32026184-32026880	Hela-S3	cervix:	n/a	n/a
45	RUNX3	chr22:32026316-32026977	GM12878	blood:	n/a	n/a
46	SPI1	chr22:32026289-32026681	GM12891	blood:	n/a	n/a
47	POLR2A	chr22:32025905-32027766	GM18526	blood:	n/a	n/a
48	TAF1	chr22:32026191-32027114	ECC-1	luminal epithelium:	n/a	n/a
49	RELA	chr22:32026229-32026975	GM18951	blood:	n/a	n/a
50	MAX	chr22:32026198-32027408	HepG2	liver:	n/a	chr22:32027239-32027254 chr22:32027241-32027250 chr22:32027242-32027249 chr22:32026861-32026871

No data

(count:20 , 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	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
4	22:32012966-32043914..22:32513817-32522138	K562	blood:
5	chr22:32026032..32028190-chr22:32055546..32059195,4	MCF-7	breast:
6	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
7	22:32012966-32043914..22:32665993-32670527	K562	blood:
8	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
9	chr22:31971863..31974758-chr22:32025154..32029039,5	MCF-7	breast:
10	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
11	22:32012966-32043914..22:32529813-32538538	K562	blood:
12	chr22:32025758..32028730-chr22:32031717..32035857,4	K562	blood:
13	chr22:31795193..31796801-chr22:32026385..32029380,2	MCF-7	breast:
14	22:32012966-32043914..22:32846948-32860159	K562	blood:
15	chr22:32024493..32026910-chr22:32057985..32060151,2	K562	blood:
16	chr22:31968452..31970023-chr22:32025865..32027475,2	MCF-7	breast:
17	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
18	chr22:31883675..31887496-chr22:32025240..32029301,5	K562	blood:
19	chr22:32025067..32026955-chr22:32148287..32151224,2	K562	blood:
20	22:32012966-32043914..22:32360288-32405313	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRR14L-1	chr22:32026508-32026785	NONHSAT084911

No data

Variant related genes	Relation type
PISD	TF binding region
ENSG00000100150	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11913714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16985215	1.00[EUR][1000 genomes]
rs16989356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16989522	1.00[EUR][1000 genomes]
rs16989532	1.00[EUR][1000 genomes]
rs16989535	1.00[EUR][1000 genomes]
rs16989537	1.00[EUR][1000 genomes]
rs35027698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4296524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57009561	1.00[EUR][1000 genomes]
rs57907329	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7284098	1.00[EUR][1000 genomes]
rs8141241	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32024800-32027000	Enhancers	Fetal Heart	heart
2	chr22:32025000-32027800	Enhancers	Fetal Brain Male	brain
3	chr22:32025600-32027200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr22:32025600-32027400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:32025600-32027400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:32025600-32027400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr22:32025600-32027600	Flanking Active TSS	Fetal Brain Female	brain
8	chr22:32025600-32027600	Active TSS	Hela-S3	cervix
9	chr22:32025800-32026800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:32025800-32027000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:32025800-32027000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:32025800-32027000	Active TSS	HepG2	liver
13	chr22:32025800-32027200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr22:32025800-32027200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr22:32025800-32027200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr22:32025800-32027200	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr22:32025800-32027200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr22:32025800-32027400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr22:32025800-32027400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr22:32025800-32027400	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr22:32025800-32027400	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr22:32025800-32027600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr22:32025800-32027600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr22:32025800-32027600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr22:32025800-32027600	Active TSS	HSMMtube	muscle
26	chr22:32025800-32027600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr22:32025800-32027800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr22:32026000-32026800	Active TSS	NHEK	skin
29	chr22:32026000-32027000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr22:32026000-32027000	Active TSS	Muscle Satellite Cultured Cells	--
31	chr22:32026000-32027000	Active TSS	Rectal Smooth Muscle	rectum
32	chr22:32026000-32027000	Active TSS	Small Intestine	intestine
33	chr22:32026000-32027000	Active TSS	NHDF-Ad	bronchial
34	chr22:32026000-32027000	Active TSS	NHLF	lung
35	chr22:32026000-32027200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr22:32026000-32027200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr22:32026000-32027200	Active TSS	Aorta	Aorta
38	chr22:32026000-32027200	Active TSS	Ovary	ovary
39	chr22:32026000-32027200	Active TSS	A549	lung
40	chr22:32026000-32027400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr22:32026000-32027400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:32026000-32027400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:32026000-32027400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr22:32026000-32027400	Active TSS	Fetal Kidney	kidney
45	chr22:32026000-32027600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr22:32026000-32027600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:32026200-32026800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:32026200-32026800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr22:32026200-32026800	Active TSS	Brain Hippocampus Middle	brain
50	chr22:32026200-32026800	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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