Variant report

Variant	rs73118079
Chromosome Location	chr1:224521946-224521947
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	BATF	chr1:224521693-224521978	GM12878	blood:	n/a	n/a
2	ATF3	chr1:224521618-224522094	K562	blood:	n/a	n/a
3	NFIC	chr1:224520976-224522182	GM12878	blood:	n/a	n/a
4	GATA3	chr1:224521562-224521946	T-47D	breast:	n/a	n/a
5	EP300	chr1:224521586-224521984	SK-N-SH_RA	brain:	n/a	n/a
6	RUNX3	chr1:224521571-224522327	GM12878	blood:	n/a	n/a
7	FOS	chr1:224521689-224522240	HUVEC	blood vessel:	n/a	n/a
8	GATA3	chr1:224521666-224522155	MCF-7	breast:	n/a	n/a
9	RUNX3	chr1:224521616-224522080	GM12878	blood:	n/a	n/a
10	CCNT2	chr1:224521801-224522054	K562	blood:	n/a	n/a
11	GATA1	chr1:224521319-224522101	PBDE	blood:	n/a	n/a
12	CEBPB	chr1:224521709-224522011	IMR90	lung:	n/a	n/a
13	TBL1XR1	chr1:224521027-224522030	K562	blood:	n/a	n/a
14	MEF2A	chr1:224521637-224522116	GM12878	blood:	n/a	chr1:224521880-224521895
15	FOS	chr1:224521730-224521990	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:224521712-224521983	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:224521698-224522030	MCF10A-Er-Src	breast:	n/a	n/a
18	TAL1	chr1:224521651-224522053	K562	blood:	n/a	n/a
19	MEF2A	chr1:224521559-224522159	K562	blood:	n/a	chr1:224521880-224521895
20	JUN	chr1:224521664-224522061	K562	blood:	n/a	n/a
21	MEF2C	chr1:224521607-224522060	GM12878	blood:	n/a	n/a
22	STAT5A	chr1:224521637-224522044	K562	blood:	n/a	n/a
23	ARID3A	chr1:224521682-224522076	K562	blood:	n/a	n/a
24	IRF1	chr1:224521726-224522035	K562	blood:	n/a	n/a
25	RAD21	chr1:224520903-224521966	SK-N-SH	brain:	n/a	chr1:224521215-224521234 chr1:224521224-224521233
26	FOSL1	chr1:224521723-224522018	K562	blood:	n/a	chr1:224521869-224521880
27	TEAD4	chr1:224520941-224522224	K562	blood:	n/a	n/a
28	FOS	chr1:224521738-224522002	MCF10A-Er-Src	breast:	n/a	n/a
29	NR2F2	chr1:224521379-224522061	K562	blood:	n/a	n/a
30	TEAD4	chr1:224521435-224522107	SK-N-SH	brain:	n/a	n/a
31	JUND	chr1:224521495-224522324	SK-N-SH	brain:	n/a	n/a
32	JUND	chr1:224521540-224522212	SK-N-SH	brain:	n/a	n/a
33	JUN	chr1:224521669-224522074	K562	blood:	n/a	n/a
34	PML	chr1:224521308-224522207	K562	blood:	n/a	n/a
35	ATF1	chr1:224521657-224522086	K562	blood:	n/a	n/a
36	GATA3	chr1:224521592-224522004	T-47D	breast:	n/a	n/a
37	RCOR1	chr1:224521045-224522062	K562	blood:	n/a	n/a
38	PML	chr1:224520930-224522181	GM12878	blood:	n/a	n/a
39	CTCF	chr1:224520848-224522064	SK-N-SH	brain:	n/a	chr1:224521212-224521233 chr1:224521218-224521234 chr1:224521224-224521231 chr1:224521014-224521022
40	YY1	chr1:224521708-224522000	GM12892	blood:	n/a	n/a
41	GATA2	chr1:224521252-224521967	HUVEC	blood vessel:	n/a	n/a
42	MEF2A	chr1:224521436-224522228	SK-N-SH	brain:	n/a	chr1:224521880-224521895
43	MEF2A	chr1:224521675-224522133	GM12878	blood:	n/a	chr1:224521880-224521895
44	JUN	chr1:224521703-224522046	K562	blood:	n/a	n/a
45	GATA2	chr1:224521603-224522079	K562	blood:	n/a	n/a
46	CBX3	chr1:224520834-224522188	K562	blood:	n/a	n/a
47	CEBPD	chr1:224521614-224522086	K562	blood:	n/a	n/a
48	GATA3	chr1:224520955-224522463	SK-N-SH	brain:	n/a	n/a
49	PBX3	chr1:224521543-224522212	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr1:224521404-224522286	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224300393..224303379-chr1:224521075..224523578,3	MCF-7	breast:

Variant related genes	Relation type
NVL	TF binding region
ENSG00000238856	TF binding region
ENSG00000143756	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73118061	1.00[AFR][1000 genomes]
rs73118062	1.00[AFR][1000 genomes]
rs73121816	1.00[AFR][1000 genomes]
rs73123796	0.86[AFR][1000 genomes]
rs73127514	1.00[AFR][1000 genomes]
rs73127517	1.00[AFR][1000 genomes]
rs7522109	1.00[AFR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224518600-224526200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224518600-224528600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224519200-224526200	Weak transcription	HepG2	liver
4	chr1:224520800-224522000	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:224521000-224522000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:224521000-224522000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:224521000-224522200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:224521000-224522200	Enhancers	HSMM	muscle
9	chr1:224521000-224522200	Enhancers	NHEK	skin
10	chr1:224521000-224522400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:224521200-224522200	Enhancers	HUVEC	blood vessel
12	chr1:224521200-224522200	Flanking Active TSS	K562	blood
13	chr1:224521200-224522200	Enhancers	NHLF	lung
14	chr1:224521200-224522200	Flanking Active TSS	Osteobl	bone
15	chr1:224521200-224522600	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:224521400-224522000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:224521400-224522000	Enhancers	NH-A	brain
18	chr1:224521400-224522200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:224521400-224522200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:224521400-224522200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:224521400-224522200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:224521400-224522200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:224521400-224522200	Enhancers	HMEC	breast
24	chr1:224521400-224522400	Enhancers	HSMMtube	muscle
25	chr1:224521400-224522600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:224521400-224522800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:224521600-224522200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:224521600-224527000	Weak transcription	A549	lung
29	chr1:224521600-224528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:224521600-224528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:224521800-224522000	Flanking Active TSS	GM12878-XiMat	blood
32	chr1:224521800-224522200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:224521800-224522200	Enhancers	NHDF-Ad	bronchial
34	chr1:224521800-224522600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:224521800-224528600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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