Variant report

Variant	rs73881422
Chromosome Location	chr22:30641699-30641700
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	POLR2A	chr22:30634332-30646592	PANC-1	pancreas:	n/a	n/a
2	HEY1	chr22:30641578-30642075	HepG2	liver:	n/a	n/a
3	MYC	chr22:30641683-30641876	MCF-7	breast:	n/a	n/a
4	POLR2A	chr22:30641657-30641916	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:30641429-30643029	U87	brain:	n/a	n/a
6	RXRA	chr22:30641619-30641891	HepG2	liver:	n/a	chr22:30641830-30641839 chr22:30641786-30641806 chr22:30641828-30641848
7	POLR2A	chr22:30631062-30645095	IMR90	lung:	n/a	n/a
8	POLR2A	chr22:30641593-30642445	PFSK-1	brain:	n/a	n/a
9	MAZ	chr22:30633617-30643724	IMR90	lung:	n/a	chr22:30642443-30642453 chr22:30641422-30641431 chr22:30642906-30642916 chr22:30634865-30634874 chr22:30640700-30640710
10	REST	chr22:30641629-30641843	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr22:30633461-30651267	A549	lung:	n/a	n/a
12	POLR2A	chr22:30640309-30646586	PANC-1	pancreas:	n/a	n/a
13	MAX	chr22:30641583-30642721	HepG2	liver:	n/a	chr22:30642443-30642453 chr22:30642489-30642499
14	POLR2A	chr22:30641535-30643801	HepG2	liver:	n/a	n/a
15	POLR2A	chr22:30639359-30648158	MCF-7	breast:	n/a	n/a
16	POLR2A	chr22:30641578-30642111	HepG2	liver:	n/a	n/a
17	CHD1	chr22:30633082-30643695	IMR90	lung:	n/a	chr22:30642644-30642654
18	CHD2	chr22:30641652-30641852	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr22:30641637-30641834	ProgFib	skin:	n/a	n/a
20	NR2F2	chr22:30641527-30642737	MCF-7	breast:	n/a	chr22:30641791-30641806
21	SIN3AK20	chr22:30641643-30641950	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr22:30641429-30642353	U87	brain:	n/a	n/a
23	POLR2A	chr22:30641492-30642894	HCT-116	colon:	n/a	n/a
24	POLR2A	chr22:30641573-30641805	A549	lung:	n/a	n/a
25	SIN3A	chr22:30641609-30642774	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr22:30634469-30646541	HCT-116	colon:	n/a	n/a
27	CTBP2	chr22:30641298-30642650	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr22:30641599-30641935	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30641352..30643505-chr22:30721621..30724253,3	MCF-7	breast:
2	chr22:30641395..30644994-chr22:30815782..30819866,5	MCF-7	breast:
3	chr22:30500122..30506829-chr22:30640771..30648697,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268812	TF binding region
ENSG00000273350	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000226573	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59254906	1.00[AMR][1000 genomes]
rs73881415	1.00[AMR][1000 genomes]
rs73881416	1.00[AMR][1000 genomes]
rs73881417	1.00[AMR][1000 genomes]
rs73881421	1.00[AMR][1000 genomes]

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	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30632600-30645200	Weak transcription	Hela-S3	cervix
2	chr22:30634000-30646800	Genic enhancers	A549	lung
3	chr22:30635200-30641800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:30637000-30641800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:30637600-30641800	Weak transcription	Primary B cells from cord blood	blood
6	chr22:30638800-30642800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr22:30639600-30641800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:30639800-30641800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:30640200-30643600	Enhancers	Fetal Brain Male	brain
10	chr22:30640200-30643600	Enhancers	Spleen	Spleen
11	chr22:30640400-30642000	Enhancers	Gastric	stomach
12	chr22:30640800-30642000	Flanking Active TSS	NH-A	brain
13	chr22:30641000-30641800	Weak transcription	Fetal Brain Female	brain
14	chr22:30641000-30642000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:30641000-30642000	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr22:30641000-30642000	Bivalent Enhancer	Fetal Thymus	thymus
17	chr22:30641000-30642200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:30641000-30642200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr22:30641000-30642400	Flanking Active TSS	HMEC	breast
20	chr22:30641000-30643000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:30641000-30643200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr22:30641200-30641800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr22:30641200-30642000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:30641200-30642000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:30641200-30642000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
26	chr22:30641200-30642200	Flanking Active TSS	Colonic Mucosa	Colon
27	chr22:30641200-30642400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr22:30641200-30642400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:30641200-30643000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr22:30641200-30643200	Active TSS	HSMMtube	muscle
31	chr22:30641400-30641800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr22:30641400-30641800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr22:30641400-30642000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:30641400-30642200	Flanking Active TSS	Osteobl	bone
35	chr22:30641400-30642400	Flanking Active TSS	HepG2	liver
36	chr22:30641400-30642600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:30641400-30642600	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr22:30641400-30643000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr22:30641400-30643000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr22:30641400-30643000	Active TSS	NHLF	lung
41	chr22:30641400-30643200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr22:30641400-30643200	Active TSS	HSMM	muscle
43	chr22:30641600-30641800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr22:30641600-30641800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr22:30641600-30641800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:30641600-30641800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr22:30641600-30641800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr22:30641600-30641800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:30641600-30641800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:30641600-30641800	Enhancers	Primary T cells from cord blood	blood

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