Variant report

Variant	rs557416867
Chromosome Location	chr22:30686570-30686571
allele	A/C
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	POLR2A	chr22:30685723-30686994	GM12878	blood:	n/a	n/a
2	PML	chr22:30685241-30686822	GM12878	blood:	n/a	chr22:30685671-30685679
3	POLR2A	chr22:30686542-30686604	HepG2	liver:	n/a	n/a
4	ELF1	chr22:30686105-30686573	HepG2	liver:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30686342-30686351
5	POLR2A	chr22:30685235-30687312	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:30685366-30688017	GM12892	blood:	n/a	n/a
7	POLR2A	chr22:30686220-30687132	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:30686553-30687170	GM12892	blood:	n/a	n/a
9	POLR2A	chr22:30685344-30687144	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:30685268-30686959	GM18951	blood:	n/a	n/a
11	EP300	chr22:30686534-30687461	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr22:30685098-30686646	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr22:30685291-30687284	GM12892	blood:	n/a	n/a
14	POLR2A	chr22:30685327-30687530	GM18505	blood:	n/a	n/a
15	MTA3	chr22:30686202-30686765	GM12878	blood:	n/a	n/a
16	ELF1	chr22:30685761-30686701	MCF-7	breast:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30686342-30686351
17	POLR2A	chr22:30686562-30687373	PFSK-1	brain:	n/a	n/a
18	ELF1	chr22:30685101-30687172	GM12878	blood:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30685584-30685593 chr22:30686342-30686351 chr22:30685383-30685396
19	POLR2A	chr22:30686149-30686879	GM12891	blood:	n/a	n/a
20	POLR2A	chr22:30685305-30687090	GM15510	blood:	n/a	n/a
21	POLR2A	chr22:30686408-30686826	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr22:30686322-30687425	HUVEC	blood vessel:	n/a	n/a
23	MXI1	chr22:30684871-30687521	SK-N-SH	brain:	n/a	chr22:30685923-30685932
24	POLR2A	chr22:30685794-30687323	GM12878	blood:	n/a	n/a
25	HMGN3	chr22:30686448-30686663	K562	blood:	n/a	n/a
26	POLR2A	chr22:30685284-30687235	GM12878	blood:	n/a	n/a
27	MXI1	chr22:30684896-30686578	IMR90	lung:	n/a	chr22:30685923-30685932
28	CHD2	chr22:30686379-30686573	HepG2	liver:	n/a	n/a
29	POLR2A	chr22:30685223-30687351	GM12892	blood:	n/a	n/a
30	POLR2A	chr22:30686400-30687099	K562	blood:	n/a	n/a
31	RUNX3	chr22:30685939-30687014	GM12878	blood:	n/a	n/a
32	RUNX3	chr22:30685778-30686598	GM12878	blood:	n/a	n/a
33	CHD2	chr22:30685341-30686750	GM12878	blood:	n/a	chr22:30686061-30686068
34	POLR2A	chr22:30685161-30687933	GM12878	blood:	n/a	n/a
35	POLR2A	chr22:30686547-30686578	ProgFib	skin:	n/a	n/a
36	POLR2A	chr22:30685442-30688222	K562	blood:	n/a	n/a
37	MAZ	chr22:30683390-30687464	IMR90	lung:	n/a	chr22:30685833-30685843
38	POLR2A	chr22:30686417-30686583	HUVEC	blood vessel:	n/a	n/a
39	ZNF263	chr22:30686563-30687874	HEK293-T-REx	kidney:	n/a	chr22:30686955-30686964 chr22:30686791-30686800 chr22:30686876-30686885 chr22:30687640-30687649 chr22:30686956-30686977 chr22:30687095-30687104
40	POLR2A	chr22:30685329-30687253	GM19193	blood:	n/a	n/a
41	NFATC1	chr22:30686140-30687110	GM12878	blood:	n/a	n/a
42	ELF1	chr22:30685191-30686613	GM12878	blood:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30685584-30685593 chr22:30686342-30686351 chr22:30685383-30685396
43	STAT5A	chr22:30685375-30686696	GM12878	blood:	n/a	n/a
44	MTA3	chr22:30684970-30687366	GM12878	blood:	n/a	n/a
45	ELF1	chr22:30686099-30686574	MCF-7	breast:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30686342-30686351
46	MAX	chr22:30686319-30686638	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30684944..30687538-chr22:30739118..30741799,2	MCF-7	breast:
2	chr22:30684284..30686749-chr22:30752450..30754272,3	MCF-7	breast:
3	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
4	chr22:30685629..30687266-chr22:30839148..30841021,2	K562	blood:
5	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
6	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
7	chr22:30683198..30686724-chr22:30818649..30821641,4	K562	blood:
8	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
9	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
10	chr22:30684393..30686613-chr22:30820961..30823363,3	MCF-7	breast:
11	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:

Variant related genes	Relation type
GATSL3	TF binding region
ENSG00000099999	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099995	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv522605	chr22:30685076-30691631	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30683600-30686800	Flanking Active TSS	Dnd41	blood
2	chr22:30684000-30686600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr22:30685800-30686600	Flanking Active TSS	NHEK	skin
4	chr22:30685800-30686800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr22:30685800-30686800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr22:30685800-30687200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr22:30685800-30687200	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr22:30685800-30687400	Enhancers	HSMMtube	muscle
9	chr22:30685800-30687800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr22:30686000-30686600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr22:30686000-30686600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr22:30686000-30686600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr22:30686000-30686800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:30686000-30686800	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr22:30686000-30686800	Flanking Active TSS	HepG2	liver
16	chr22:30686000-30687000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:30686000-30687000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr22:30686000-30687200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr22:30686000-30687400	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr22:30686000-30687600	Enhancers	Stomach Mucosa	stomach
21	chr22:30686000-30688200	Enhancers	Fetal Heart	heart
22	chr22:30686000-30700000	Weak transcription	Fetal Kidney	kidney
23	chr22:30686200-30686600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr22:30686200-30686600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr22:30686200-30686600	Enhancers	Adipose Nuclei	Adipose
26	chr22:30686200-30686600	Enhancers	Brain Substantia Nigra	brain
27	chr22:30686200-30686600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr22:30686200-30686800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:30686200-30686800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:30686200-30686800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr22:30686200-30686800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr22:30686200-30686800	Enhancers	Psoas Muscle	Psoas
33	chr22:30686200-30686800	Flanking Active TSS	Spleen	Spleen
34	chr22:30686200-30687000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr22:30686200-30687000	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr22:30686200-30687000	Weak transcription	Fetal Brain Female	brain
37	chr22:30686200-30687000	Enhancers	Fetal Muscle Leg	muscle
38	chr22:30686200-30687000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr22:30686200-30687200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr22:30686200-30687200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr22:30686200-30687200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:30686200-30687200	Enhancers	Fetal Stomach	stomach
43	chr22:30686200-30687200	Enhancers	Thymus	Thymus
44	chr22:30686200-30687200	Enhancers	A549	lung
45	chr22:30686200-30687400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:30686200-30687400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:30686200-30687400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr22:30686200-30687400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr22:30686200-30687400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr22:30686200-30687400	Enhancers	Cortex derived primary cultured neurospheres	brain

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