Variant report

Variant	rs571333904
Chromosome Location	chr22:30698718-30698719
allele	-/G
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	SPI1	chr22:30698323-30698896	GM12891	blood:	n/a	chr22:30698744-30698757 chr22:30698680-30698687 chr22:30698746-30698755 chr22:30698743-30698756
2	SPI1	chr22:30698605-30698868	K562	blood:	n/a	chr22:30698744-30698757 chr22:30698680-30698687 chr22:30698746-30698755 chr22:30698743-30698756
3	SPI1	chr22:30698266-30699110	HL-60	blood:	n/a	chr22:30698744-30698757 chr22:30698680-30698687 chr22:30698746-30698755 chr22:30698743-30698756
4	EBF1	chr22:30698544-30698751	GM12878	blood:	n/a	n/a
5	SPI1	chr22:30698563-30698862	GM12878	blood:	n/a	chr22:30698744-30698757 chr22:30698680-30698687 chr22:30698746-30698755 chr22:30698743-30698756
6	EBF1	chr22:30698452-30698851	GM12878	blood:	n/a	n/a
7	SPI1	chr22:30698408-30698937	GM12891	blood:	n/a	chr22:30698744-30698757 chr22:30698680-30698687 chr22:30698746-30698755 chr22:30698743-30698756
8	NFIC	chr22:30698122-30698815	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr22:30698466-30698901	NB4	blood:	n/a	n/a
10	SP1	chr22:30697950-30698767	HCT-116	colon:	n/a	chr22:30698318-30698332 chr22:30698361-30698375
11	POLR2A	chr22:30698454-30698961	HL-60	blood:	n/a	n/a
12	SPI1	chr22:30698262-30699159	GM12878	blood:	n/a	chr22:30698744-30698757 chr22:30698680-30698687 chr22:30698746-30698755 chr22:30698743-30698756
13	NFIC	chr22:30698133-30698791	ECC-1	luminal epithelium:	n/a	n/a
14	TFAP2C	chr22:30698167-30698718	Hela-S3	cervix:	n/a	chr22:30698329-30698344
15	GABPA	chr22:30698172-30698800	MCF-7	breast:	n/a	n/a
16	TCF12	chr22:30698022-30698758	ECC-1	luminal epithelium:	n/a	n/a
17	MYC	chr22:30698444-30698903	NB4	blood:	n/a	n/a
18	SPI1	chr22:30698642-30698844	K562	blood:	n/a	chr22:30698744-30698757 chr22:30698680-30698687 chr22:30698746-30698755 chr22:30698743-30698756
19	ELF1	chr22:30698149-30698829	MCF-7	breast:	n/a	chr22:30698744-30698755
20	ELF1	chr22:30698180-30698905	GM12878	blood:	n/a	chr22:30698744-30698755
21	RUNX3	chr22:30698352-30698909	GM12878	blood:	n/a	n/a
22	TCF12	chr22:30698085-30698820	ECC-1	luminal epithelium:	n/a	n/a
23	SPI1	chr22:30698460-30698954	HL-60	blood:	n/a	chr22:30698744-30698757 chr22:30698680-30698687 chr22:30698746-30698755 chr22:30698743-30698756
24	EBF1	chr22:30698395-30698818	GM12878	blood:	n/a	n/a
25	SPI1	chr22:30698505-30698947	GM12878	blood:	n/a	chr22:30698744-30698757 chr22:30698680-30698687 chr22:30698746-30698755 chr22:30698743-30698756
26	RUNX3	chr22:30698457-30698913	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30698626..30701089-chr22:30721523..30724140,3	MCF-7	breast:
2	chr22:30698659..30701498-chr22:30769224..30771586,2	MCF-7	breast:
3	chr22:30689707..30691265-chr22:30696967..30699657,2	K562	blood:
4	chr22:30697290..30700187-chr22:30735084..30737167,2	MCF-7	breast:
5	chr22:30697815..30699936-chr22:30705927..30707445,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC157-2	chr22:30698563-30698719	NONHSAT084768

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686000-30700000	Weak transcription	Fetal Kidney	kidney
2	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
3	chr22:30686400-30701800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:30686600-30700600	Genic enhancers	Fetal Thymus	thymus
5	chr22:30686800-30701800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:30687000-30699600	Strong transcription	Fetal Brain Female	brain
8	chr22:30687400-30701200	Weak transcription	K562	blood
9	chr22:30687400-30706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:30687600-30699000	Weak transcription	HepG2	liver
11	chr22:30687600-30699800	Genic enhancers	Esophagus	oesophagus
12	chr22:30687600-30701400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:30688200-30699200	Strong transcription	Aorta	Aorta
14	chr22:30688200-30700600	Strong transcription	Fetal Stomach	stomach
15	chr22:30690200-30699000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:30690200-30700200	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr22:30690400-30700800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:30690800-30699800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr22:30690800-30701600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:30691000-30706800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:30692800-30700600	Genic enhancers	Placenta	Placenta
22	chr22:30693200-30701000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:30693400-30701800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr22:30694400-30700200	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr22:30694800-30700600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:30695200-30700400	Genic enhancers	Spleen	Spleen
27	chr22:30695400-30701000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:30695400-30706800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:30696200-30699200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr22:30696400-30700400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:30696400-30700400	Genic enhancers	Adipose Nuclei	Adipose
32	chr22:30696400-30701000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr22:30696400-30701200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:30696400-30703200	Enhancers	Brain Hippocampus Middle	brain
35	chr22:30696400-30703200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr22:30696600-30700400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:30696600-30700800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr22:30696600-30701000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:30696600-30701000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:30696600-30702400	Enhancers	Right Atrium	heart
41	chr22:30696800-30699800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr22:30696800-30700400	Strong transcription	Brain Germinal Matrix	brain
43	chr22:30696800-30700800	Genic enhancers	Stomach Smooth Muscle	stomach
44	chr22:30697000-30699600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:30697000-30699600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr22:30697000-30699800	Genic enhancers	Stomach Mucosa	stomach
47	chr22:30697000-30703600	Enhancers	Brain Substantia Nigra	brain
48	chr22:30697200-30698800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:30697200-30699000	Enhancers	Brain Anterior Caudate	brain
50	chr22:30697200-30699200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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