Variant report

Variant	rs73881400
Chromosome Location	chr22:32034532-32034533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr22:32034367-32034911	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:32034268-32034661	GM12891	blood:	n/a	n/a
3	MAX	chr22:32033420-32034794	GM12878	blood:	n/a	chr22:32034281-32034290 chr22:32034413-32034423
4	POLR2A	chr22:32033370-32034998	GM12878	blood:	n/a	n/a
5	NFIC	chr22:32034274-32034994	GM12878	blood:	n/a	n/a
6	CUX1	chr22:32034438-32034823	GM12878	blood:	n/a	n/a
7	MTA3	chr22:32033185-32035119	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:32033338-32035021	GM12892	blood:	n/a	n/a
9	POLR2A	chr22:32033349-32034749	GM15510	blood:	n/a	n/a
10	PAX5	chr22:32034307-32034797	GM12878	blood:	n/a	chr22:32034501-32034510
11	POLR2A	chr22:32033303-32034699	GM12892	blood:	n/a	n/a
12	NFYB	chr22:32034400-32034642	GM12878	blood:	n/a	n/a
13	EP300	chr22:32034330-32034773	GM12878	blood:	n/a	chr22:32034499-32034513 chr22:32034508-32034515
14	POLR2A	chr22:32033264-32035051	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr22:32034245-32034791	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:32033917-32034635	GM12878	blood:	n/a	n/a
17	POLR2A	chr22:32033378-32034759	GM19193	blood:	n/a	n/a
18	RUNX3	chr22:32033950-32035063	GM12878	blood:	n/a	n/a
19	TAF1	chr22:32034401-32034643	GM12892	blood:	n/a	n/a
20	POLR2A	chr22:32033237-32034875	GM12892	blood:	n/a	n/a
21	YY1	chr22:32034443-32035213	GM12878	blood:	n/a	n/a
22	POLR2A	chr22:32033380-32034841	GM18526	blood:	n/a	n/a
23	TCF12	chr22:32034343-32034661	GM12878	blood:	n/a	n/a
24	POLR2A	chr22:32033369-32034754	GM18505	blood:	n/a	n/a
25	POLR2A	chr22:32033302-32035061	GM12891	blood:	n/a	n/a
26	SPI1	chr22:32034382-32034554	GM12878	blood:	n/a	chr22:32034454-32034467
27	POLR2A	chr22:32033278-32034744	GM12891	blood:	n/a	n/a
28	SPI1	chr22:32034251-32034697	GM12878	blood:	n/a	chr22:32034454-32034467
29	POLR2A	chr22:32034009-32034741	Raji	blood:	n/a	n/a
30	ESR1	chr22:32033909-32034657	T-47D	breast:	n/a	n/a
31	MYC	chr22:32034305-32034689	NB4	blood:	n/a	chr22:32034413-32034423
32	BHLHE40	chr22:32034396-32034804	GM12878	blood:	n/a	n/a
33	MXI1	chr22:32033370-32034749	GM12878	blood:	n/a	n/a
34	ELF1	chr22:32034332-32035106	GM12878	blood:	n/a	n/a
35	POLR2A	chr22:32033854-32034764	GM12878	blood:	n/a	n/a
36	SPI1	chr22:32034071-32034799	HL-60	blood:	n/a	chr22:32034454-32034467
37	POLR2A	chr22:32033209-32034861	GM12892	blood:	n/a	n/a
38	STAT1	chr22:32033555-32034673	GM12878	blood:	n/a	chr22:32034409-32034421
39	SPI1	chr22:32034199-32034937	GM12878	blood:	n/a	chr22:32034454-32034467
40	BCLAF1	chr22:32034259-32034767	GM12878	blood:	n/a	n/a
41	POLR2A	chr22:32033347-32034744	GM12892	blood:	n/a	n/a
42	POU2F2	chr22:32033335-32034777	GM12878	blood:	n/a	n/a
43	POLR2A	chr22:32033381-32034793	GM19099	blood:	n/a	n/a
44	POLR2A	chr22:32033237-32035015	GM12878	blood:	n/a	n/a
45	POLR2A	chr22:32033375-32035018	GM18951	blood:	n/a	n/a
46	TCF3	chr22:32033942-32034694	GM12878	blood:	n/a	n/a
47	SPI1	chr22:32034276-32034646	GM12891	blood:	n/a	chr22:32034454-32034467
48	RCOR1	chr22:32033970-32034795	GM12878	blood:	n/a	n/a
49	RUNX3	chr22:32033823-32035097	GM12878	blood:	n/a	n/a
50	TAF1	chr22:32034332-32034683	GM12891	blood:	n/a	n/a

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	chr22:32026689..32028779-chr22:32033425..32035914,3	K562	blood:
4	22:32012966-32043914..22:32513817-32522138	K562	blood:
5	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
6	22:32012966-32043914..22:32665993-32670527	K562	blood:
7	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
8	22:32012966-32043914..22:32529813-32538538	K562	blood:
9	22:32012966-32043914..22:32846948-32860159	K562	blood:
10	chr22:32025758..32028730-chr22:32031717..32035857,4	K562	blood:
11	22:32012966-32043914..22:32360288-32405313	K562	blood:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12171217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16989347	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55779244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56337539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60526650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9619218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621300	0.94[AFR][1000 genomes]
rs9621301	0.94[AFR][1000 genomes]
rs9621304	1.00[AFR][1000 genomes];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	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:124 , 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	chr22:32027400-32042200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:32027400-32042800	Weak transcription	Fetal Lung	lung
6	chr22:32027600-32035600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr22:32027600-32035800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:32027600-32037000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:32027600-32040600	Weak transcription	Ovary	ovary
10	chr22:32027600-32042000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:32027600-32042000	Weak transcription	NH-A	brain
12	chr22:32027600-32042200	Weak transcription	Brain Germinal Matrix	brain
13	chr22:32027600-32043200	Weak transcription	HSMMtube	muscle
14	chr22:32027600-32044800	Weak transcription	Small Intestine	intestine
15	chr22:32027800-32035200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr22:32027800-32035800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr22:32027800-32037200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:32027800-32037200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:32027800-32038000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:32027800-32039200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr22:32027800-32040600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:32027800-32040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:32027800-32040600	Weak transcription	Primary T cells from cord blood	blood
24	chr22:32027800-32040800	Weak transcription	Fetal Brain Female	brain
25	chr22:32027800-32042000	Weak transcription	HSMM	muscle
26	chr22:32027800-32042200	Weak transcription	Fetal Brain Male	brain
27	chr22:32027800-32042200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:32027800-32042400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:32027800-32042600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:32027800-32042600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr22:32027800-32042800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr22:32027800-32043200	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:32027800-32043800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr22:32028000-32043200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:32028200-32039200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:32028400-32035600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:32028400-32043200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:32030000-32040600	Weak transcription	Dnd41	blood
39	chr22:32030200-32034800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:32030600-32035200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr22:32031400-32039200	Weak transcription	Hela-S3	cervix
42	chr22:32031800-32040600	Weak transcription	HepG2	liver
43	chr22:32032200-32035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:32032200-32041800	Weak transcription	HMEC	breast
45	chr22:32032200-32046000	Weak transcription	Pancreas	Pancrea
46	chr22:32032600-32035600	Weak transcription	Stomach Mucosa	stomach
47	chr22:32032600-32038800	Weak transcription	Liver	Liver
48	chr22:32032600-32039200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr22:32033200-32034600	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr22:32033200-32035000	Flanking Active TSS	Primary hematopoietic stem cells	blood

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