Variant report

Variant	rs11607981
Chromosome Location	chr11:47401060-47401061
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47399086-47401154	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:47395963-47401300	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:47397376-47401224	GM12878	blood:	n/a	n/a
4	GATA1	chr11:47397923-47401398	K562	blood:	n/a	n/a
5	POLR2A	chr11:47397519-47401084	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:47395858-47401398	HL-60	blood:	n/a	n/a
7	JUN	chr11:47397764-47401060	K562	blood:	n/a	chr11:47398988-47398999 chr11:47400136-47400145
8	GATA3	chr11:47400805-47401286	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47401027-47401077	GM19239	blood:	n/a
2	chr11:47401027-47401077	NB4	blood:	n/a
3	chr11:47401027-47401077	NT2-D1	testis:	n/a
4	chr11:47401027-47401077	SK-N-MC	brain:	n/a
5	chr11:47401027-47401077	ovcar-3	ovarian:	n/a
6	chr11:47401027-47401077	SKMC	muscle:	n/a
7	chr11:47401027-47401077	H1-hESC	embryonic stem cell:	embryo
8	chr11:47401027-47401077	HCPEpiC	choroid plexus:	n/a
9	chr11:47401027-47401077	PFSK-1	brain:	n/a
10	chr11:47401027-47401077	HIPEpiC	eye:	n/a
11	chr11:47401027-47401077	GM12878	blood:	n/a
12	chr11:47401027-47401077	AG10803	skin:	n/a
13	chr11:47401027-47401077	U87	brain:	n/a
14	chr11:47401027-47401077	RPTEC	kidney:	n/a
15	chr11:47401027-47401077	GM06990	blood:	n/a
16	chr11:47401027-47401077	AG04450	lung:	fetal
17	chr11:47401027-47401077	HCM	heart:	n/a
18	chr11:47401027-47401077	HNPCEpiC	eye:	n/a
19	chr11:47401027-47401077	HMEC	breast:	n/a
20	chr11:47401027-47401077	A549	lung:	n/a
21	chr11:47401027-47401077	HRCEpiC	kidney:	n/a
22	chr11:47401027-47401077	HCF	heart:	n/a
23	chr11:47401027-47401077	HAEpiC	amniotic membrane:	n/a
24	chr11:47401027-47401077	GM12892	blood:	n/a
25	chr11:47401027-47401077	HEK293	kidney:	embryo
26	chr11:47401027-47401077	K562	blood:	n/a
27	chr11:47401027-47401077	MCF10A-Er-Src	breast:	n/a
28	chr11:47401027-47401077	HepG2	liver:	n/a
29	chr11:47401027-47401077	AG09309	skin:	n/a
30	chr11:47401027-47401077	T-47D	breast:	n/a
31	chr11:47401027-47401077	Jurkat	blood:	n/a
32	chr11:47401027-47401077	LNCaP	prostate:	n/a
33	chr11:47401027-47401077	IMR90	lung:	fetal
34	chr11:47401027-47401077	Hepatocyte	liver:	n/a
35	chr11:47401027-47401077	SK-N-SH_RA	brain:	n/a
36	chr11:47401027-47401077	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:47401027-47401077	CMK	blood:	n/a
38	chr11:47401027-47401077	HRE	kidney:	n/a
39	chr11:47401027-47401077	Caco-2	colon:	n/a
40	chr11:47401027-47401077	BE2_C	brain:	n/a
41	chr11:47401027-47401077	PANC-1	pancreas:	n/a
42	chr11:47401027-47401077	HRPEpiC	eye:	n/a
43	chr11:47401027-47401077	SAEC	small airway:	n/a
44	chr11:47401027-47401077	NHBE	bronchial:	n/a
45	chr11:47401027-47401077	GM12891	blood:	n/a
46	chr11:47401027-47401077	NHDF-neo	bronchial:	n/a
47	chr11:47401027-47401077	AG09319	gingival:	n/a
48	chr11:47401027-47401077	AoSMC	blood vessel:	n/a
49	chr11:47401027-47401077	ECC-1	luminal epithelium:	n/a
50	chr11:47401027-47401077	HEEpiC	esophagus:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47400738..47402278-chr11:47408307..47410990,2	MCF-7	breast:
2	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
3	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
4	chr11:47399997..47402556-chr8:126443816..126446707,2	MCF-7	breast:
5	chr11:47397757..47399596-chr11:47400915..47402681,3	MCF-7	breast:
6	chr11:47400529..47402179-chr11:47427161..47429791,2	MCF-7	breast:
7	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
8	chr11:47400131..47402578-chr11:47411947..47414997,4	K562	blood:

No data

Variant related genes	Relation type
SPI1	TF binding region
SPI1	CpG island
ENSG00000165915	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000255197	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1057233	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10734557	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10742803	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10769258	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769262	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838698	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838699	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838704	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10838706	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11039195	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11039199	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11039200	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11039202	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11039203	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039212	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039219	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11600581	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11601603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604680	0.81[EUR][1000 genomes]
rs11605672	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12146565	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12802273	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12803525	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1317164	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1542321	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2053979	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2053980	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2071304	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2084946	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2293577	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2293578	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2293580	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2856661	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2868459	0.81[EUR][1000 genomes]
rs35496532	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35705029	0.81[EUR][1000 genomes]
rs35996350	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3740686	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3781624	0.88[EUR][1000 genomes]
rs3781625	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3781626	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3781627	0.82[EUR][1000 genomes]
rs4752827	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752832	0.80[EUR][1000 genomes]
rs4752987	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752990	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752993	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4752994	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752999	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4992357	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55677087	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55876153	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55927797	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56030824	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58965622	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60075622	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6485753	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485756	0.82[EUR][1000 genomes]
rs67116452	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67472071	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105851	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7107726	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7111957	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs755553	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs755554	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs755555	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7924485	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7928163	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928419	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7937331	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7940536	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896815	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs896816	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935914	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11607981	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs11607981	C1QTNF4	cis	Muscle Skeletal	GTEx
rs11607981	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx
rs11607981	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs11607981	NDUFS3	Cis_1M	lymphoblastoid	RTeQTL
rs11607981	SPI1	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47395200-47410000	Weak transcription	Gastric	stomach
2	chr11:47397400-47401200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:47399400-47404200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:47399400-47421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:47399800-47404200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:47399800-47405000	Weak transcription	Right Atrium	heart
7	chr11:47399800-47405800	Weak transcription	Brain Angular Gyrus	brain
8	chr11:47399800-47421200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:47400000-47404000	Weak transcription	Lung	lung
10	chr11:47400000-47404200	Weak transcription	Adipose Nuclei	Adipose
11	chr11:47400000-47410000	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:47400000-47415200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:47400000-47416000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:47400000-47416800	Weak transcription	Brain Anterior Caudate	brain
15	chr11:47400000-47421200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:47400400-47401200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:47400600-47401400	Enhancers	K562	blood
18	chr11:47400600-47403400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:47400600-47404000	Weak transcription	Spleen	Spleen
20	chr11:47400600-47404200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:47400600-47409800	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:47400800-47401200	Enhancers	Primary B cells from cord blood	blood
23	chr11:47400800-47401200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:47400800-47401200	Enhancers	GM12878-XiMat	blood
25	chr11:47400800-47401400	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:47400800-47401400	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:47400800-47401400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:47400800-47404200	Weak transcription	Fetal Thymus	thymus
29	chr11:47401000-47402000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:47401000-47403200	Enhancers	Primary neutrophils fromperipheralblood	blood

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