Variant report

Variant	rs757573
Chromosome Location	chr22:30788983-30788984
allele	C/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	ELF1	chr22:30788686-30789226	GM12878	blood:	n/a	chr22:30788812-30788825
2	PAX5	chr22:30788899-30789252	GM12878	blood:	n/a	chr22:30789081-30789099
3	ESR1	chr22:30788884-30789398	T-47D	breast:	n/a	n/a
4	PAX5	chr22:30788853-30789274	GM12878	blood:	n/a	chr22:30789081-30789099
5	SPI1	chr22:30788632-30788990	GM12891	blood:	n/a	chr22:30788813-30788826
6	SPI1	chr22:30788550-30789093	HL-60	blood:	n/a	chr22:30788813-30788826
7	EBF1	chr22:30788721-30789219	GM12878	blood:	n/a	n/a
8	WRNIP1	chr22:30788869-30789033	GM12878	blood:	n/a	n/a
9	MAZ	chr22:30788700-30789049	K562	blood:	n/a	n/a
10	ESR1	chr22:30788946-30789347	T-47D	breast:	n/a	n/a
11	SPI1	chr22:30788624-30789066	HL-60	blood:	n/a	chr22:30788813-30788826
12	BHLHE40	chr22:30788718-30789156	GM12878	blood:	n/a	n/a
13	TCF12	chr22:30788931-30789180	GM12878	blood:	n/a	n/a
14	ESR1	chr22:30788954-30789301	T-47D	breast:	n/a	n/a
15	MAZ	chr22:30788672-30789145	GM12878	blood:	n/a	n/a
16	STAT1	chr22:30788707-30789054	GM12878	blood:	n/a	n/a
17	ESR1	chr22:30788905-30789334	T-47D	breast:	n/a	n/a
18	SPI1	chr22:30788610-30789004	GM12891	blood:	n/a	chr22:30788813-30788826
19	YY1	chr22:30788829-30789117	GM12878	blood:	n/a	n/a
20	PAX5	chr22:30788744-30789306	GM12878	blood:	n/a	chr22:30788816-30788825 chr22:30789081-30789099
21	PAX5	chr22:30788901-30789139	GM12891	blood:	n/a	chr22:30789081-30789099
22	PAX5	chr22:30788944-30789220	GM12892	blood:	n/a	chr22:30789081-30789099
23	SPI1	chr22:30788538-30789101	GM12878	blood:	n/a	chr22:30788813-30788826
24	PAX5	chr22:30788943-30789175	GM12878	blood:	n/a	chr22:30789081-30789099
25	CHD2	chr22:30788627-30789188	GM12878	blood:	n/a	chr22:30788831-30788841
26	SPI1	chr22:30788669-30789013	GM12878	blood:	n/a	chr22:30788813-30788826
27	NR2F2	chr22:30788937-30789486	MCF-7	breast:	n/a	n/a
28	ESR1	chr22:30788932-30789419	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
2	chr22:30788497..30790917-chr22:30792227..30795810,3	MCF-7	breast:
3	chr22:30788715..30789368-chr22:30804732..30805268,2	MCF-7	breast:
4	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
5	chr22:30786344..30789166-chr22:30790183..30793938,3	K562	blood:
6	chr22:30781811..30783816-chr22:30788972..30790591,2	MCF-7	breast:
7	chr22:30787474..30789998-chr22:30829336..30831551,2	K562	blood:

Variant related genes	Relation type
SEC14L2	TF binding region
ENSG00000268538	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000203606	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000249590	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000222915	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12165697	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12165816	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs55947634	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30783800-30789200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:30783800-30789200	Weak transcription	Stomach Mucosa	stomach
3	chr22:30783800-30789600	Weak transcription	Lung	lung
4	chr22:30783800-30792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:30783800-30792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:30783800-30792400	Weak transcription	Fetal Brain Male	brain
7	chr22:30783800-30792400	Weak transcription	Fetal Lung	lung
8	chr22:30783800-30792600	Weak transcription	Esophagus	oesophagus
9	chr22:30783800-30792600	Weak transcription	Fetal Brain Female	brain
10	chr22:30783800-30792600	Weak transcription	Fetal Kidney	kidney
11	chr22:30783800-30792600	Weak transcription	Pancreas	Pancrea
12	chr22:30783800-30792600	Weak transcription	Right Atrium	heart
13	chr22:30783800-30793000	Weak transcription	Gastric	stomach
14	chr22:30785000-30789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:30786600-30789000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr22:30786800-30789600	Enhancers	Primary B cells from peripheral blood	blood
17	chr22:30787000-30789800	Enhancers	Primary B cells from cord blood	blood
18	chr22:30787000-30789800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:30787000-30789800	Enhancers	Dnd41	blood
20	chr22:30787200-30789000	Enhancers	Brain Hippocampus Middle	brain
21	chr22:30787200-30789600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr22:30787200-30789800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr22:30787200-30790000	Enhancers	HepG2	liver
24	chr22:30787400-30789000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:30787400-30789400	Enhancers	Primary hematopoietic stem cells	blood
26	chr22:30787400-30789600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr22:30787400-30789800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:30787400-30789800	Enhancers	Primary T cells from cord blood	blood
29	chr22:30787400-30789800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr22:30787400-30789800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr22:30787400-30789800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:30787400-30792600	Enhancers	Liver	Liver
33	chr22:30787600-30789200	Enhancers	K562	blood
34	chr22:30787600-30789800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:30787600-30790000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:30787600-30790000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:30787600-30792000	Weak transcription	HMEC	breast
38	chr22:30787600-30792200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr22:30787600-30792400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr22:30787600-30792600	Enhancers	Fetal Thymus	thymus
41	chr22:30787800-30789000	Weak transcription	Fetal Intestine Large	intestine
42	chr22:30787800-30789600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:30787800-30792200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr22:30787800-30792400	Weak transcription	Brain Anterior Caudate	brain
45	chr22:30787800-30792400	Weak transcription	HSMM	muscle
46	chr22:30787800-30792400	Weak transcription	NHEK	skin
47	chr22:30787800-30792600	Weak transcription	Brain Angular Gyrus	brain
48	chr22:30787800-30792600	Weak transcription	Brain Substantia Nigra	brain
49	chr22:30787800-30792600	Weak transcription	HSMMtube	muscle
50	chr22:30787800-30792600	Weak transcription	HUVEC	blood vessel

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