Variant report

Variant	rs905591
Chromosome Location	chr1:161691927-161691928
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	JUN	chr1:161691438-161692067	K562	blood:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905
2	REST	chr1:161691792-161692051	K562	blood:	n/a	n/a
3	EGR1	chr1:161691748-161692128	K562	blood:	n/a	n/a
4	RUNX3	chr1:161691774-161692026	GM12878	blood:	n/a	n/a
5	ELF1	chr1:161691797-161692113	K562	blood:	n/a	n/a
6	JUN	chr1:161691618-161692121	K562	blood:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905
7	EBF1	chr1:161691900-161692027	GM12878	blood:	n/a	chr1:161691936-161691947
8	CCNT2	chr1:161691747-161692119	K562	blood:	n/a	n/a
9	FOS	chr1:161691713-161692094	HUVEC	blood vessel:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905 chr1:161691893-161691904
10	FOSL1	chr1:161691589-161692167	HCT-116	colon:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905 chr1:161691893-161691904
11	FOSL2	chr1:161691646-161692090	A549	lung:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905
12	REST	chr1:161691784-161692127	K562	blood:	n/a	n/a
13	FOS	chr1:161691735-161692054	MCF10A-Er-Src	breast:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905 chr1:161691893-161691904
14	MTA3	chr1:161691706-161692131	GM12878	blood:	n/a	n/a
15	RXRA	chr1:161691560-161692263	SK-N-SH	brain:	n/a	chr1:161692122-161692138
16	MAFK	chr1:161691732-161692090	K562	blood:	n/a	chr1:161691893-161691903
17	E2F6	chr1:161691881-161692110	K562	blood:	n/a	n/a
18	GATA2	chr1:161691753-161692094	K562	blood:	n/a	n/a
19	FOSL1	chr1:161691730-161692077	K562	blood:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905 chr1:161691893-161691904
20	ATF1	chr1:161691692-161692095	K562	blood:	n/a	n/a
21	POLR2A	chr1:161691438-161692174	U87	brain:	n/a	n/a
22	BHLHE40	chr1:161691413-161692257	K562	blood:	n/a	n/a
23	STAT3	chr1:161691566-161691995	MCF10A-Er-Src	breast:	n/a	chr1:161691810-161691821 chr1:161691820-161691828
24	CTCF	chr1:161691840-161691990	HBMEC	blood vessel:	n/a	chr1:161691865-161691873
25	ZBTB7A	chr1:161691864-161692068	K562	blood:	n/a	n/a
26	SPI1	chr1:161691737-161692011	GM12891	blood:	n/a	n/a
27	UBTF	chr1:161691721-161691966	K562	blood:	n/a	n/a
28	TAF1	chr1:161691841-161692124	K562	blood:	n/a	n/a
29	EGR1	chr1:161691735-161692087	K562	blood:	n/a	n/a
30	YY1	chr1:161691820-161692036	K562	blood:	n/a	n/a
31	TEAD4	chr1:161691680-161692130	K562	blood:	n/a	n/a
32	PBX3	chr1:161691599-161692262	SK-N-SH	brain:	n/a	n/a
33	JUN	chr1:161691710-161692111	K562	blood:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905
34	POLR2A	chr1:161691790-161692153	K562	blood:	n/a	n/a
35	PAX5	chr1:161691777-161692183	GM12878	blood:	n/a	n/a
36	JUND	chr1:161691503-161692233	SK-N-SH	brain:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905 chr1:161691893-161691904
37	RFX5	chr1:161691795-161691956	K562	blood:	n/a	n/a
38	RAD21	chr1:161691746-161692061	IMR90	lung:	n/a	chr1:161691865-161691877
39	STAT3	chr1:161691512-161691984	MCF10A-Er-Src	breast:	n/a	chr1:161691810-161691821 chr1:161691820-161691828
40	TEAD4	chr1:161691430-161692203	K562	blood:	n/a	n/a
41	POLR2A	chr1:161691697-161692102	K562	blood:	n/a	n/a
42	NR2F2	chr1:161691451-161692192	K562	blood:	n/a	n/a
43	UBTF	chr1:161691766-161692097	K562	blood:	n/a	n/a
44	MAFK	chr1:161691606-161692047	IMR90	lung:	n/a	chr1:161691893-161691903
45	SPI1	chr1:161691637-161692116	HL-60	blood:	n/a	n/a
46	POLR2A	chr1:161691761-161692094	K562	blood:	n/a	n/a
47	FOSL2	chr1:161691750-161692049	A549	lung:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905
48	HMGN3	chr1:161691838-161692090	K562	blood:	n/a	n/a
49	POLR2A	chr1:161691883-161692025	MCF10A-Er-Src	breast:	n/a	n/a
50	JUN	chr1:161691689-161692086	K562	blood:	n/a	chr1:161691896-161691903 chr1:161691894-161691903 chr1:161691893-161691905

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161691911-161691961	HCT-116	colon:	n/a
2	chr1:161691911-161691961	LNCaP	prostate:	n/a
3	chr1:161691911-161691961	Hela-S3	cervix:	n/a
4	chr1:161691911-161691961	HCF	heart:	n/a
5	chr1:161691911-161691961	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:161691911-161691961	SK-N-SH	brain:	n/a
7	chr1:161691911-161691961	HRCEpiC	kidney:	n/a
8	chr1:161691911-161691961	PANC-1	pancreas:	n/a
9	chr1:161691911-161691961	NH-A	brain:	n/a
10	chr1:161691911-161691961	BE2_C	brain:	n/a
11	chr1:161691911-161691961	ovcar-3	ovarian:	n/a
12	chr1:161691911-161691961	AoSMC	blood vessel:	n/a
13	chr1:161691911-161691961	K562	blood:	n/a
14	chr1:161691911-161691961	AG04450	lung:	fetal
15	chr1:161691911-161691961	HRPEpiC	eye:	n/a
16	chr1:161691911-161691961	Jurkat	blood:	n/a
17	chr1:161691911-161691961	HUVEC	blood vessel:	n/a
18	chr1:161691911-161691961	GM19239	blood:	n/a
19	chr1:161691911-161691961	Hepatocyte	liver:	n/a
20	chr1:161691911-161691961	U87	brain:	n/a
21	chr1:161691911-161691961	GM12891	blood:	n/a
22	chr1:161691911-161691961	MCF-7	breast:	n/a
23	chr1:161691911-161691961	GM12878	blood:	n/a
24	chr1:161691911-161691961	Caco-2	colon:	n/a
25	chr1:161691911-161691961	SK-N-MC	brain:	n/a
26	chr1:161691911-161691961	HL-60	blood:	n/a
27	chr1:161691911-161691961	H1-hESC	embryonic stem cell:	embryo
28	chr1:161691911-161691961	NHBE	bronchial:	n/a
29	chr1:161691911-161691961	HCPEpiC	choroid plexus:	n/a
30	chr1:161691911-161691961	ProgFib	skin:	n/a
31	chr1:161691911-161691961	HEEpiC	esophagus:	n/a
32	chr1:161691911-161691961	HAEpiC	amniotic membrane:	n/a
33	chr1:161691911-161691961	HepG2	liver:	n/a
34	chr1:161691911-161691961	T-47D	breast:	n/a
35	chr1:161691911-161691961	NB4	blood:	n/a
36	chr1:161691911-161691961	BJ	skin:	n/a
37	chr1:161691911-161691961	SAEC	small airway:	n/a
38	chr1:161691911-161691961	AG09309	skin:	n/a
39	chr1:161691911-161691961	AG10803	skin:	n/a
40	chr1:161691911-161691961	SKMC	muscle:	n/a
41	chr1:161691911-161691961	HRE	kidney:	n/a
42	chr1:161691911-161691961	SK-N-SH_RA	brain:	n/a
43	chr1:161691911-161691961	PFSK-1	brain:	n/a
44	chr1:161691911-161691961	IMR90	lung:	fetal
45	chr1:161691911-161691961	PrEC	prostate:	n/a
46	chr1:161691911-161691961	RPTEC	kidney:	n/a
47	chr1:161691911-161691961	HMEC	breast:	n/a
48	chr1:161691911-161691961	CMK	blood:	n/a
49	chr1:161691911-161691961	HIPEpiC	eye:	n/a
50	chr1:161691911-161691961	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161679981..161681633-chr1:161691027..161692726,2	MCF-7	breast:

Variant related genes	Relation type
FCRLB	TF binding region
FCRLB	CpG island
ENSG00000132185	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1503809	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2000104	0.93[EUR][1000 genomes]
rs35287180	1.00[AFR][1000 genomes]
rs71634907	1.00[AFR][1000 genomes]
rs7520519	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs905591	FCRLA	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161676200-161692000	Weak transcription	Spleen	Spleen
2	chr1:161689000-161692400	Enhancers	Primary B cells from cord blood	blood
3	chr1:161689000-161692600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr1:161689000-161695400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:161689000-161695600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:161689400-161692600	Enhancers	GM12878-XiMat	blood
7	chr1:161689400-161692800	Enhancers	NHDF-Ad	bronchial
8	chr1:161689800-161692600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:161690800-161692600	Enhancers	HSMM	muscle
10	chr1:161690800-161692600	Enhancers	HSMMtube	muscle
11	chr1:161690800-161692800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:161691000-161692200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:161691000-161692400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:161691000-161692400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:161691000-161692400	Enhancers	NH-A	brain
16	chr1:161691000-161692600	Enhancers	NHLF	lung
17	chr1:161691000-161692600	Enhancers	Osteobl	bone
18	chr1:161691200-161692600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:161691400-161692000	Enhancers	Hela-S3	cervix
20	chr1:161691400-161692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:161691400-161692200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:161691400-161692200	Enhancers	A549	lung
23	chr1:161691400-161692200	Flanking Active TSS	K562	blood
24	chr1:161691400-161692200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:161691400-161692400	Enhancers	NHEK	skin
26	chr1:161691400-161692800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:161691600-161692200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:161691600-161692400	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:161691600-161692400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:161691600-161692400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr1:161691600-161692600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:161691600-161692600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:161691600-161692600	Enhancers	HMEC	breast
34	chr1:161691800-161692000	Enhancers	HUVEC	blood vessel
35	chr1:161691800-161692400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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