Variant report

Variant	rs182551418
Chromosome Location	chr22:29998972-29998973
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	CREB1	chr22:29998930-29999827	GM12878	blood:	n/a	n/a
2	JUN	chr22:29998932-30000264	K562	blood:	n/a	n/a
3	POLR2A	chr22:29998691-29999990	PFSK-1	brain:	n/a	n/a
4	RFX5	chr22:29998820-30000563	SK-N-SH	brain:	n/a	n/a
5	MTA3	chr22:29998889-29999425	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:29998949-30000331	GM12892	blood:	n/a	n/a
7	YY1	chr22:29998968-30000261	GM12878	blood:	n/a	chr22:29999869-29999883 chr22:29999502-29999516 chr22:30000112-30000126 chr22:29999872-29999886
8	TCF12	chr22:29998964-29999551	A549	lung:	n/a	n/a
9	POLR2A	chr22:29998960-30000285	GM12891	blood:	n/a	n/a
10	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
11	POLR2A	chr22:29998963-30000279	Hela-S3	cervix:	n/a	n/a
12	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
13	NR2F2	chr22:29998957-29999922	MCF-7	breast:	n/a	n/a
14	MAX	chr22:29998933-30000379	A549	lung:	n/a	chr22:29999616-29999627 chr22:29999583-29999592 chr22:29999505-29999515 chr22:29999617-29999626
15	POLR2A	chr22:29998861-30000210	SK-N-MC	brain:	n/a	n/a
16	NRF1	chr22:29998916-30000217	SK-N-SH	brain:	n/a	chr22:29999559-29999568 chr22:29999646-29999655
17	POLR2A	chr22:29998697-30000239	HUVEC	blood vessel:	n/a	n/a
18	NR2F2	chr22:29998936-29999908	K562	blood:	n/a	n/a
19	RUNX3	chr22:29998945-29999787	GM12878	blood:	n/a	n/a
20	POLR2A	chr22:29998885-30000169	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr22:29998953-30001176	IMR90	lung:	n/a	n/a
22	POLR2A	chr22:29998957-29999915	PANC-1	pancreas:	n/a	n/a
23	MAZ	chr22:29998958-30000718	IMR90	lung:	n/a	chr22:29999616-29999627 chr22:29999583-29999592 chr22:29999505-29999515 chr22:29999617-29999626
24	POLR2A	chr22:29998928-30000364	K562	blood:	n/a	n/a
25	POLR2A	chr22:29998963-30000179	HepG2	liver:	n/a	n/a
26	HCFC1	chr22:29998825-30000391	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr22:29998937-30000270	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr22:29998968-29999421	GM12878	blood:	n/a	n/a
29	POLR2A	chr22:29998956-30000222	GM12878	blood:	n/a	n/a
30	PML	chr22:29998893-29999985	GM12878	blood:	n/a	n/a
31	POLR2A	chr22:29998940-30000025	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr22:29998951-30000245	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr22:29998901-30001332	SK-N-SH	brain:	n/a	n/a
34	MAX	chr22:29998921-30000151	K562	blood:	n/a	chr22:29999616-29999627 chr22:29999583-29999592 chr22:29999505-29999515 chr22:29999617-29999626

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

Variant related genes	Relation type
NF2	TF binding region
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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29985200-29999000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr22:29985200-29999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:29990200-29999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:29992800-29999000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:29993400-29999000	Weak transcription	HSMMtube	muscle
6	chr22:29993600-29999000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr22:29995000-29999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:29995000-29999000	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:29995000-29999000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:29995000-29999000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:29995400-29999000	Weak transcription	Fetal Intestine Large	intestine
12	chr22:29997000-29999000	Weak transcription	Placenta	Placenta
13	chr22:29997600-29999000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:29997600-29999000	Enhancers	Fetal Muscle Trunk	muscle
15	chr22:29997800-29999000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:29997800-29999000	Enhancers	Fetal Muscle Leg	muscle
17	chr22:29997800-29999000	Weak transcription	K562	blood
18	chr22:29998000-29999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29998000-29999000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:29998000-29999000	Weak transcription	Fetal Intestine Small	intestine
21	chr22:29998000-29999000	Weak transcription	NH-A	brain
22	chr22:29998000-29999000	Weak transcription	NHEK	skin
23	chr22:29998400-29999000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr22:29998400-30000200	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr22:29998400-30001200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:29998600-29999000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr22:29998600-29999000	Enhancers	Primary B cells from peripheral blood	blood
28	chr22:29998600-29999000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr22:29998600-29999000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr22:29998600-29999000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr22:29998600-29999000	Enhancers	Duodenum Mucosa	Duodenum
32	chr22:29998600-29999000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr22:29998600-29999000	Enhancers	Spleen	Spleen
34	chr22:29998600-30000000	Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr22:29998600-30000400	Active TSS	Brain Cingulate Gyrus	brain
36	chr22:29998600-30000600	Active TSS	Hela-S3	cervix
37	chr22:29998600-30000800	Active TSS	Colonic Mucosa	Colon
38	chr22:29998600-30001400	Active TSS	GM12878-XiMat	blood
39	chr22:29998600-30002000	Active TSS	HSMM	muscle
40	chr22:29998800-29999000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:29998800-29999000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr22:29998800-29999000	Enhancers	Primary B cells from cord blood	blood
43	chr22:29998800-29999000	Weak transcription	Primary T cells from cord blood	blood
44	chr22:29998800-29999000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr22:29998800-29999000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr22:29998800-29999000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr22:29998800-29999000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr22:29998800-29999000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:29998800-29999000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:29998800-29999000	Flanking Active TSS	Brain Anterior Caudate	brain

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