Variant report

Variant	rs73881434
Chromosome Location	chr22:30701688-30701689
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	POLR2A	chr22:30701316-30702550	GM12892	blood:	n/a	n/a
2	POLR2A	chr22:30700755-30703159	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:30701369-30702575	GM19099	blood:	n/a	n/a
4	PML	chr22:30701269-30702793	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:30701264-30702323	GM12878	blood:	n/a	n/a
6	EP300	chr22:30701489-30701698	GM12878	blood:	n/a	chr22:30701651-30701665
7	POLR2A	chr22:30701347-30701939	GM12892	blood:	n/a	n/a
8	POLR2A	chr22:30701420-30701954	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:30701439-30701996	GM12891	blood:	n/a	n/a
10	SPI1	chr22:30701519-30702254	HL-60	blood:	n/a	chr22:30702182-30702191
11	EP300	chr22:30700193-30701864	ECC-1	luminal epithelium:	n/a	chr22:30701651-30701665
12	POLR2A	chr22:30701444-30702333	GM12878	blood:	n/a	n/a
13	ELF1	chr22:30701530-30701826	K562	blood:	n/a	n/a
14	POLR2A	chr22:30701372-30702872	GM12892	blood:	n/a	n/a
15	BCLAF1	chr22:30701401-30701960	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:30701373-30702497	GM12878	blood:	n/a	n/a
17	RCOR1	chr22:30701505-30702897	GM12878	blood:	n/a	n/a
18	POLR2A	chr22:30701420-30702449	GM19193	blood:	n/a	n/a
19	MAX	chr22:30701673-30702206	NB4	blood:	n/a	chr22:30701714-30701724 chr22:30702116-30702125
20	POLR2A	chr22:30701436-30701989	GM12878	blood:	n/a	n/a
21	MAZ	chr22:30701299-30702643	GM12878	blood:	n/a	chr22:30701714-30701724 chr22:30702116-30702125
22	TAF1	chr22:30701454-30701920	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:30701374-30702553	GM15510	blood:	n/a	n/a
24	POLR2A	chr22:30701418-30701968	GM12878	blood:	n/a	n/a
25	TAF1	chr22:30701469-30701905	PFSK-1	brain:	n/a	n/a
26	NFYB	chr22:30701497-30701912	GM12878	blood:	n/a	n/a
27	GATA2	chr22:30701321-30702531	HUVEC	blood vessel:	n/a	chr22:30702456-30702465 chr22:30702329-30702336
28	YY1	chr22:30701637-30701889	GM12878	blood:	n/a	n/a
29	POLR2A	chr22:30701471-30701941	GM12891	blood:	n/a	n/a
30	POLR2A	chr22:30701410-30702043	HUVEC	blood vessel:	n/a	n/a
31	NFIC	chr22:30700243-30701889	ECC-1	luminal epithelium:	n/a	n/a
32	TBL1XR1	chr22:30701397-30701830	GM12878	blood:	n/a	n/a
33	POLR2A	chr22:30700705-30703456	GM12891	blood:	n/a	n/a
34	MAZ	chr22:30701609-30702160	K562	blood:	n/a	chr22:30701714-30701724 chr22:30702116-30702125
35	SMC3	chr22:30701471-30701715	GM12878	blood:	n/a	n/a
36	POLR2A	chr22:30701290-30703257	GM18505	blood:	n/a	n/a
37	NRF1	chr22:30701658-30702049	GM12878	blood:	n/a	n/a
38	ZNF143	chr22:30701629-30701808	GM12878	blood:	n/a	n/a
39	RUNX3	chr22:30701467-30701949	GM12878	blood:	n/a	n/a
40	POLR2A	chr22:30701399-30702581	GM18951	blood:	n/a	n/a
41	MTA3	chr22:30700387-30703520	GM12878	blood:	n/a	n/a
42	POLR2A	chr22:30700698-30702962	Raji	blood:	n/a	n/a
43	POLR2A	chr22:30701244-30702568	GM12892	blood:	n/a	n/a
44	POLR2A	chr22:30701387-30702007	PFSK-1	brain:	n/a	n/a
45	NFIC	chr22:30701389-30701919	GM12878	blood:	n/a	n/a
46	POLR2A	chr22:30701424-30702080	GM12891	blood:	n/a	n/a
47	POLR2A	chr22:30701371-30702510	GM12892	blood:	n/a	n/a
48	SPI1	chr22:30701486-30701891	GM12878	blood:	n/a	n/a
49	TBP	chr22:30701419-30701956	GM12878	blood:	n/a	n/a
50	SPI1	chr22:30701605-30701941	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30642799..30644915-chr22:30699451..30702374,2	MCF-7	breast:
2	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:
3	chr22:30692354..30698688-chr22:30699927..30704803,9	K562	blood:
4	chr22:30701188..30702736-chr22:30752373..30753948,2	MCF-7	breast:
5	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
6	chr22:30699910..30702358-chr22:30713888..30716292,3	MCF-7	breast:

Variant related genes	Relation type
TBC1D10A	TF binding region
ENSG00000187860	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000128342	Chromatin interaction

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

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

rs_ID	r²[population]
rs56225631	1.00[AMR][1000 genomes]
rs73881431	0.96[AFR][1000 genomes]
rs73881432	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881433	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8140116	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30686400-30701800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:30686800-30701800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:30687400-30706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:30691000-30706800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:30693400-30701800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:30695400-30706800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:30696400-30703200	Enhancers	Brain Hippocampus Middle	brain
10	chr22:30696400-30703200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr22:30696600-30702400	Enhancers	Right Atrium	heart
12	chr22:30697000-30703600	Enhancers	Brain Substantia Nigra	brain
13	chr22:30697200-30702800	Genic enhancers	HSMM	muscle
14	chr22:30697400-30712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:30697600-30701800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:30697600-30703200	Enhancers	Brain Cingulate Gyrus	brain
17	chr22:30697600-30703200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr22:30698000-30702400	Enhancers	Pancreas	Pancrea
19	chr22:30698200-30702400	Enhancers	Right Ventricle	heart
20	chr22:30698600-30702000	Weak transcription	A549	lung
21	chr22:30698600-30705800	Enhancers	Colon Smooth Muscle	Colon
22	chr22:30698800-30705600	Weak transcription	Ovary	ovary
23	chr22:30698800-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:30699200-30704200	Weak transcription	Aorta	Aorta
25	chr22:30699200-30706200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr22:30699400-30702400	Enhancers	Left Ventricle	heart
27	chr22:30699400-30703000	Enhancers	Fetal Lung	lung
28	chr22:30699600-30702200	Enhancers	Brain Angular Gyrus	brain
29	chr22:30699600-30702400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr22:30699600-30703200	Enhancers	Brain Anterior Caudate	brain
31	chr22:30699600-30703600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:30699600-30706200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain
34	chr22:30699800-30702400	Enhancers	Fetal Muscle Leg	muscle
35	chr22:30699800-30705600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr22:30699800-30710000	Weak transcription	HepG2	liver
37	chr22:30699800-30711600	Enhancers	Stomach Mucosa	stomach
38	chr22:30700000-30710000	Enhancers	HMEC	breast
39	chr22:30700200-30702000	Enhancers	Fetal Muscle Trunk	muscle
40	chr22:30700200-30702800	Enhancers	Liver	Liver
41	chr22:30700200-30703800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:30700200-30712000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr22:30700200-30712600	Enhancers	Primary hematopoietic stem cells	blood
44	chr22:30700400-30701800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr22:30700400-30702000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr22:30700400-30702200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr22:30700400-30702200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:30700400-30702400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr22:30700400-30702400	Enhancers	Spleen	Spleen
50	chr22:30700400-30702400	Enhancers	NHDF-Ad	bronchial

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