Variant report

Variant	rs549757204
Chromosome Location	chr22:29999074-29999075
allele	G/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	MAX	chr22:29999070-29999989	H1-hESC	embryonic stem cell:	n/a	chr22:29999616-29999627 chr22:29999583-29999592 chr22:29999505-29999515 chr22:29999617-29999626
2	POLR2A	chr22:29999074-29999344	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:29999022-29999853	K562	blood:	n/a	n/a
4	IRF1	chr22:29999026-29999683	K562	blood:	n/a	chr22:29999436-29999445 chr22:29999504-29999518 chr22:29999361-29999368 chr22:29999058-29999065 chr22:29999391-29999405
5	POLR2A	chr22:29998973-30000138	GM12878	blood:	n/a	n/a
6	SP2	chr22:29998982-29999673	H1-hESC	embryonic stem cell:	n/a	chr22:29999299-29999322
7	CREB1	chr22:29998930-29999827	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:29998987-30000218	GM12892	blood:	n/a	n/a
9	POLR2A	chr22:29999042-30000157	A549	lung:	n/a	n/a
10	NR2F2	chr22:29998998-29999809	K562	blood:	n/a	n/a
11	CREB1	chr22:29998991-29999811	GM12878	blood:	n/a	n/a
12	E2F6	chr22:29999002-30000073	K562	blood:	n/a	chr22:29999012-29999019 chr22:29999406-29999413 chr22:29999012-29999019 chr22:29999402-29999414 chr22:29999008-29999020 chr22:29999406-29999413 chr22:29999521-29999531 chr22:29999012-29999019 chr22:29999225-29999240 chr22:29999406-29999413 chr22:29999436-29999445
13	POLR2A	chr22:29999008-30000228	GM19193	blood:	n/a	n/a
14	JUN	chr22:29998932-30000264	K562	blood:	n/a	n/a
15	POLR2A	chr22:29998691-29999990	PFSK-1	brain:	n/a	n/a
16	RFX5	chr22:29998820-30000563	SK-N-SH	brain:	n/a	n/a
17	MTA3	chr22:29998889-29999425	GM12878	blood:	n/a	n/a
18	POLR2A	chr22:29998949-30000331	GM12892	blood:	n/a	n/a
19	RUNX3	chr22:29999024-29999768	GM12878	blood:	n/a	n/a
20	YY1	chr22:29998968-30000261	GM12878	blood:	n/a	chr22:29999869-29999883 chr22:29999502-29999516 chr22:30000112-30000126 chr22:29999872-29999886
21	CTCF	chr22:29999060-29999210	HCPEpiC	choroid plexus:	n/a	n/a
22	POU2F2	chr22:29999027-29999654	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:29999026-30000207	HEK293	kidney:	n/a	n/a
24	TBP	chr22:29999074-29999665	GM12878	blood:	n/a	n/a
25	TCF12	chr22:29998964-29999551	A549	lung:	n/a	n/a
26	MAX	chr22:29999026-30000191	MCF-7	breast:	n/a	chr22:29999616-29999627 chr22:29999583-29999592 chr22:29999505-29999515 chr22:29999617-29999626
27	POLR2A	chr22:29998989-29999392	HepG2	liver:	n/a	n/a
28	POLR2A	chr22:29999047-30000164	K562	blood:	n/a	n/a
29	POLR2A	chr22:29998983-30000245	Raji	blood:	n/a	n/a
30	POLR2A	chr22:29999009-30000502	PBDE	blood:	n/a	n/a
31	POLR2A	chr22:29999059-30000093	K562	blood:	n/a	n/a
32	POLR2A	chr22:29998960-30000285	GM12891	blood:	n/a	n/a
33	POLR2A	chr22:29999039-30000198	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr22:29999013-30000037	U87	brain:	n/a	n/a
35	E2F4	chr22:29998966-29999760	MCF10A-Er-Src	breast:	n/a	chr22:29999012-29999019 chr22:29999406-29999413 chr22:29999012-29999019 chr22:29999402-29999414 chr22:29999008-29999020 chr22:29999406-29999413 chr22:29999521-29999531 chr22:29999012-29999019 chr22:29999225-29999240 chr22:29999406-29999413 chr22:29999547-29999558 chr22:29999436-29999445
36	SP1	chr22:29998994-29999779	H1-hESC	embryonic stem cell:	n/a	chr22:29999391-29999402 chr22:29999504-29999516 chr22:29999391-29999403 chr22:29999506-29999515 chr22:29999505-29999515 chr22:29999505-29999514 chr22:29999501-29999515 chr22:29999504-29999516
37	POLR2A	chr22:29998963-30000279	Hela-S3	cervix:	n/a	n/a
38	SP1	chr22:29998917-29999896	HCT-116	colon:	n/a	chr22:29999391-29999402 chr22:29999504-29999516 chr22:29999391-29999403 chr22:29999506-29999515 chr22:29999505-29999515 chr22:29999505-29999514 chr22:29999501-29999515 chr22:29999504-29999516
39	EP300	chr22:29999016-29999310	GM12878	blood:	n/a	n/a
40	CTCF	chr22:29999020-29999170	SK-N-SH_RA	brain:	n/a	n/a
41	GABPA	chr22:29998984-29999705	SK-N-SH	brain:	n/a	chr22:29999559-29999568 chr22:29999646-29999655
42	EBF1	chr22:29999029-29999529	GM12878	blood:	n/a	chr22:29999128-29999137 chr22:29999127-29999137
43	STAT3	chr22:29999065-29999638	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr22:29998996-29999859	MCF10A-Er-Src	breast:	n/a	n/a
45	SP1	chr22:29999035-29999661	H1-hESC	embryonic stem cell:	n/a	chr22:29999391-29999402 chr22:29999504-29999516 chr22:29999391-29999403 chr22:29999506-29999515 chr22:29999505-29999515 chr22:29999505-29999514 chr22:29999501-29999515 chr22:29999504-29999516
46	POLR2A	chr22:29998975-30000309	HUVEC	blood vessel:	n/a	n/a
47	TAF1	chr22:29998995-30000105	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr22:29999013-29999844	U87	brain:	n/a	n/a
49	SP4	chr22:29999068-29999747	H1-hESC	embryonic stem cell:	n/a	chr22:29999391-29999402
50	POLR2A	chr22:29998984-30000234	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:52026823..52027558-chr22:29999049..30000022,2	HCT-116	colon:
2	chr22:29975483..29978642-chr22:29996311..30000725,6	MCF-7	breast:
3	chr22:29998884..29999633-chr3:23958298..23958926,2	NB4	blood:
4	chr22:29975560..29978145-chr22:29998416..30001350,4	MCF-7	breast:

Variant related genes	Relation type
NF2	TF binding region
ENSG00000102786	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000184117	Chromatin interaction
ENSG00000174748	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv817417	chr22:29998464-30035142	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr22:29998400-30000200	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr22:29998400-30001200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:29998600-30000000	Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr22:29998600-30000400	Active TSS	Brain Cingulate Gyrus	brain
5	chr22:29998600-30000600	Active TSS	Hela-S3	cervix
6	chr22:29998600-30000800	Active TSS	Colonic Mucosa	Colon
7	chr22:29998600-30001400	Active TSS	GM12878-XiMat	blood
8	chr22:29998600-30002000	Active TSS	HSMM	muscle
9	chr22:29998800-29999200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr22:29998800-29999200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:29998800-30000000	Active TSS	Stomach Smooth Muscle	stomach
12	chr22:29998800-30000000	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr22:29998800-30000200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:29998800-30000400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr22:29998800-30000400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29998800-30000400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:29998800-30000400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr22:29998800-30000400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:29998800-30000400	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr22:29998800-30000400	Active TSS	Dnd41	blood
21	chr22:29998800-30000800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:29998800-30001000	Active TSS	Right Atrium	heart
23	chr22:29998800-30001000	Active TSS	Thymus	Thymus
24	chr22:29998800-30001200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:29998800-30001200	Active TSS	Right Ventricle	heart
26	chr22:29999000-29999200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr22:29999000-29999200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr22:29999000-29999200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr22:29999000-29999200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr22:29999000-29999200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr22:29999000-29999200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:29999000-29999200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr22:29999000-29999200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr22:29999000-29999200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr22:29999000-29999200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr22:29999000-29999200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:29999000-29999200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:29999000-29999200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr22:29999000-29999200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:29999000-29999200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:29999000-29999200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:29999000-29999200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr22:29999000-29999200	Enhancers	Fetal Brain Male	brain
44	chr22:29999000-29999200	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr22:29999000-29999200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr22:29999000-29999200	Flanking Active TSS	Fetal Thymus	thymus
47	chr22:29999000-29999200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr22:29999000-29999200	Flanking Active TSS	HepG2	liver
49	chr22:29999000-29999200	Flanking Active TSS	NH-A	brain
50	chr22:29999000-29999200	Flanking Active TSS	NHEK	skin

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