Variant report

Variant	rs3750994
Chromosome Location	chr11:4113470-4113471
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:4113265-4113513	K562	blood:	n/a	n/a
2	GABPA	chr11:4113227-4113613	K562	blood:	n/a	n/a
3	SMC3	chr11:4113305-4113581	K562	blood:	n/a	n/a
4	MAZ	chr11:4113246-4113609	K562	blood:	n/a	n/a
5	UBTF	chr11:4113374-4113574	K562	blood:	n/a	n/a
6	UBTF	chr11:4113310-4113609	K562	blood:	n/a	n/a
7	TBP	chr11:4113307-4113637	K562	blood:	n/a	n/a
8	MAFK	chr11:4113194-4113559	K562	blood:	n/a	n/a
9	POLR2A	chr11:4112420-4117868	K562	blood:	n/a	n/a
10	POLR2A	chr11:4113280-4113573	K562	blood:	n/a	n/a
11	POLR2A	chr11:4113095-4113587	HL-60	blood:	n/a	n/a
12	MYC	chr11:4113327-4113603	K562	blood:	n/a	n/a
13	ZNF143	chr11:4113362-4113551	K562	blood:	n/a	n/a
14	POLR2A	chr11:4113237-4113567	K562	blood:	n/a	n/a
15	POLR2A	chr11:4113159-4117790	GM12891	blood:	n/a	n/a
16	ZNF143	chr11:4113359-4113491	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4113452-4113502	K562	blood:	n/a
2	chr11:4113452-4113502	NH-A	brain:	n/a
3	chr11:4113452-4113502	Caco-2	colon:	n/a
4	chr11:4113452-4113502	AG04450	lung:	fetal
5	chr11:4113452-4113502	ECC-1	luminal epithelium:	n/a
6	chr11:4113452-4113502	GM19239	blood:	n/a
7	chr11:4113452-4113502	HCT-116	colon:	n/a
8	chr11:4113452-4113502	ovcar-3	ovarian:	n/a
9	chr11:4113452-4113502	NB4	blood:	n/a
10	chr11:4113452-4113502	A549	lung:	n/a
11	chr11:4113452-4113502	GM12878	blood:	n/a
12	chr11:4113452-4113502	AG09309	skin:	n/a
13	chr11:4113452-4113502	HCM	heart:	n/a
14	chr11:4113452-4113502	SK-N-MC	brain:	n/a
15	chr11:4113452-4113502	PFSK-1	brain:	n/a
16	chr11:4113452-4113502	HMEC	breast:	n/a
17	chr11:4113452-4113502	ProgFib	skin:	n/a
18	chr11:4113452-4113502	AG04449	skin:	fetal
19	chr11:4113452-4113502	LNCaP	prostate:	n/a
20	chr11:4113452-4113502	NHDF-neo	bronchial:	n/a
21	chr11:4113452-4113502	HEK293	kidney:	embryo
22	chr11:4113452-4113502	AoSMC	blood vessel:	n/a
23	chr11:4113452-4113502	SK-N-SH	brain:	n/a
24	chr11:4113452-4113502	MCF10A-Er-Src	breast:	n/a
25	chr11:4113452-4113502	HUVEC	blood vessel:	n/a
26	chr11:4113452-4113502	HEEpiC	esophagus:	n/a
27	chr11:4113452-4113502	HepG2	liver:	n/a
28	chr11:4113452-4113502	SAEC	small airway:	n/a
29	chr11:4113452-4113502	HCPEpiC	choroid plexus:	n/a
30	chr11:4113452-4113502	NHBE	bronchial:	n/a
31	chr11:4113452-4113502	HL-60	blood:	n/a
32	chr11:4113452-4113502	HRCEpiC	kidney:	n/a
33	chr11:4113452-4113502	NT2-D1	testis:	n/a
34	chr11:4113452-4113502	BJ	skin:	n/a
35	chr11:4113452-4113502	HIPEpiC	eye:	n/a
36	chr11:4113452-4113502	GM06990	blood:	n/a
37	chr11:4113452-4113502	Hela-S3	cervix:	n/a
38	chr11:4113452-4113502	BE2_C	brain:	n/a
39	chr11:4113452-4113502	H1-hESC	embryonic stem cell:	embryo
40	chr11:4113452-4113502	SKMC	muscle:	n/a
41	chr11:4113452-4113502	AG09319	gingival:	n/a
42	chr11:4113452-4113502	IMR90	lung:	fetal
43	chr11:4113452-4113502	SK-N-SH_RA	brain:	n/a
44	chr11:4113452-4113502	PANC-1	pancreas:	n/a
45	chr11:4113452-4113502	AG10803	skin:	n/a
46	chr11:4113452-4113502	CMK	blood:	n/a
47	chr11:4113452-4113502	HAEpiC	amniotic membrane:	n/a
48	chr11:4113452-4113502	GM12892	blood:	n/a
49	chr11:4113452-4113502	U87	brain:	n/a
50	chr11:4113452-4113502	PrEC	prostate:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:4102803..4104604-chr11:4111954..4114316,2	K562	blood:
2	chr11:3830403..3832693-chr11:4111742..4114186,3	K562	blood:
3	chr11:4108868..4111240-chr11:4112635..4115203,2	MCF-7	breast:
4	chr11:3859988..3862622-chr11:4113266..4115501,2	K562	blood:
5	chr11:3880710..3882363-chr11:4111617..4114224,2	K562	blood:

No data

Variant related genes	Relation type
RRM1	TF binding region
RRM1	CpG island
ENSG00000177105	Chromatin interaction
ENSG00000148985	Chromatin interaction
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10430939	0.88[CHB][hapmap]
rs10458900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500591	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs10500592	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10500593	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11030286	0.80[ASN][1000 genomes]
rs11030326	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11030327	0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs11030366	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs11030417	0.80[ASN][1000 genomes]
rs11030418	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs11030453	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11030478	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs11030479	0.84[ASN][1000 genomes]
rs11030481	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs11030484	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs11030485	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs11030486	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs11030697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11030796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030942	0.82[AMR][1000 genomes]
rs11030975	0.82[AMR][1000 genomes]
rs11031004	0.82[AMR][1000 genomes]
rs11525342	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11529865	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12222250	0.82[CEU][hapmap];0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs1372803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929410	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16929438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16929477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16929492	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16929529	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs16929531	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs16929538	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs16929540	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs16929542	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[CHD][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs16929546	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs16929611	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs16929616	0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs16929653	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs1822286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1899478	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2167563	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs2268165	0.82[AMR][1000 genomes]
rs2284448	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2284449	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4910878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs55679086	0.84[ASN][1000 genomes]
rs55680570	0.81[AMR][1000 genomes]
rs55978228	0.84[ASN][1000 genomes]
rs56126231	0.80[ASN][1000 genomes]
rs56140937	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59242983	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61897163	0.80[ASN][1000 genomes]
rs61897164	0.80[ASN][1000 genomes]
rs61897166	0.81[ASN][1000 genomes]
rs61897170	0.81[ASN][1000 genomes]
rs61897171	0.81[ASN][1000 genomes]
rs61897194	0.81[ASN][1000 genomes]
rs61897195	0.80[ASN][1000 genomes]
rs61897201	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61897202	0.84[ASN][1000 genomes]
rs61897206	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61897234	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61897237	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61897238	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61897254	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897257	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61897258	0.82[AMR][1000 genomes]
rs61897259	0.82[AMR][1000 genomes]
rs61899662	0.90[AMR][1000 genomes]
rs6578423	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs720106	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs723779	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs72851736	0.84[ASN][1000 genomes]
rs750526	0.82[CEU][hapmap];0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs7928117	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[TSI][hapmap]
rs7934581	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7941743	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs894454	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4086200-4115200	Weak transcription	NHDF-Ad	bronchial
2	chr11:4087600-4115000	Weak transcription	HSMMtube	muscle
3	chr11:4093800-4115000	Weak transcription	Brain Germinal Matrix	brain
4	chr11:4093800-4115200	Weak transcription	Fetal Kidney	kidney
5	chr11:4094000-4115000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:4094000-4115000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:4094000-4115200	Weak transcription	Brain Substantia Nigra	brain
8	chr11:4098200-4115000	Weak transcription	Hela-S3	cervix
9	chr11:4100200-4115200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:4100600-4115200	Weak transcription	NHLF	lung
11	chr11:4101400-4113600	Strong transcription	Primary B cells from cord blood	blood
12	chr11:4101400-4114000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:4101400-4114200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr11:4101600-4113800	Strong transcription	Adipose Nuclei	Adipose
15	chr11:4101800-4114000	Strong transcription	Fetal Stomach	stomach
16	chr11:4102200-4114000	Strong transcription	Spleen	Spleen
17	chr11:4102400-4115200	Weak transcription	Fetal Brain Male	brain
18	chr11:4103000-4115200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:4103200-4115200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:4103400-4114000	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:4104200-4113800	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:4105800-4115200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:4106200-4114200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:4106600-4115400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:4108200-4115000	Weak transcription	NHEK	skin
26	chr11:4108200-4115200	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:4108200-4115200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:4108200-4115400	Weak transcription	Small Intestine	intestine
29	chr11:4108400-4114800	Weak transcription	Pancreas	Pancrea
30	chr11:4108400-4115000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:4108400-4115200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:4108400-4115200	Weak transcription	Brain Anterior Caudate	brain
33	chr11:4108600-4115000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:4108600-4115000	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:4108600-4115000	Weak transcription	Psoas Muscle	Psoas
36	chr11:4108800-4115000	Weak transcription	Stomach Mucosa	stomach
37	chr11:4108800-4115200	Weak transcription	Brain Angular Gyrus	brain
38	chr11:4109200-4115000	Weak transcription	HSMM	muscle
39	chr11:4109200-4115000	Weak transcription	Osteobl	bone
40	chr11:4109200-4115200	Weak transcription	HUVEC	blood vessel
41	chr11:4109400-4115000	Weak transcription	HepG2	liver
42	chr11:4109600-4114800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:4110000-4115000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:4110000-4115200	Weak transcription	Placenta	Placenta
45	chr11:4110200-4115000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:4110200-4115000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:4110600-4113600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:4111000-4114400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:4111200-4113600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:4111200-4113800	Flanking Active TSS	Primary T cells from cord blood	blood

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