Variant report

Variant	rs4754342
Chromosome Location	chr11:108535624-108535625
allele	G/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	TAF1	chr11:108535429-108536132	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr11:108535620-108535770	HEEpiC	esophagus:	n/a	chr11:108535677-108535690
3	MAX	chr11:108535410-108536218	K562	blood:	n/a	n/a
4	POLR2A	chr11:108535319-108536029	HCT-116	colon:	n/a	n/a
5	FOS	chr11:108535390-108535861	MCF10A-Er-Src	breast:	n/a	chr11:108535701-108535710 chr11:108535556-108535565 chr11:108535723-108535732
6	SIN3AK20	chr11:108535440-108536152	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:108535423-108536072	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr11:108535292-108536034	K562	blood:	n/a	chr11:108535559-108535574
9	CTCF	chr11:108535600-108535750	GM12873	blood:	n/a	chr11:108535677-108535690
10	CHD2	chr11:108535408-108536035	H1-hESC	embryonic stem cell:	n/a	chr11:108535630-108535640
11	CTCF	chr11:108535620-108535770	SK-N-SH_RA	brain:	n/a	chr11:108535677-108535690
12	CEBPB	chr11:108535372-108535905	A549	lung:	n/a	n/a
13	MAX	chr11:108535235-108536381	HepG2	liver:	n/a	n/a
14	NRF1	chr11:108535397-108535964	H1-hESC	embryonic stem cell:	n/a	chr11:108535781-108535790 chr11:108535583-108535592 chr11:108535776-108535790 chr11:108535583-108535594 chr11:108535779-108535788 chr11:108535580-108535594 chr11:108535779-108535790 chr11:108535582-108535593
15	ZNF143	chr11:108535454-108535711	Hela-S3	cervix:	n/a	chr11:108535674-108535692
16	ELF1	chr11:108535468-108536259	GM12878	blood:	n/a	chr11:108535865-108535874 chr11:108535868-108535877 chr11:108535616-108535628 chr11:108535867-108535879
17	MAX	chr11:108535327-108536814	NB4	blood:	n/a	n/a
18	NR2C2	chr11:108535503-108535941	HepG2	liver:	n/a	n/a
19	USF2	chr11:108535560-108535902	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr11:108535209-108536070	GM12878	blood:	n/a	n/a
21	JUN	chr11:108535334-108535847	HepG2	liver:	n/a	chr11:108535701-108535710 chr11:108535556-108535565 chr11:108535723-108535732 chr11:108535555-108535568
22	TCF12	chr11:108535522-108536099	ECC-1	luminal epithelium:	n/a	n/a
23	NFYB	chr11:108535552-108535818	Hela-S3	cervix:	n/a	chr11:108535699-108535709 chr11:108535697-108535712 chr11:108535697-108535712 chr11:108535696-108535708 chr11:108535694-108535709
24	MAX	chr11:108535361-108536089	MCF-7	breast:	n/a	n/a
25	JUN	chr11:108535362-108535902	K562	blood:	n/a	chr11:108535701-108535710 chr11:108535556-108535565 chr11:108535723-108535732 chr11:108535555-108535568
26	POLR2A	chr11:108535518-108536028	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:108535333-108536179	SK-N-MC	brain:	n/a	n/a
28	TBP	chr11:108535349-108535897	Hela-S3	cervix:	n/a	n/a
29	NRF1	chr11:108535364-108535986	GM12878	blood:	n/a	chr11:108535781-108535790 chr11:108535583-108535592 chr11:108535776-108535790 chr11:108535583-108535594 chr11:108535779-108535788 chr11:108535580-108535594 chr11:108535779-108535790 chr11:108535582-108535593
30	MYBL2	chr11:108535279-108535926	HepG2	liver:	n/a	n/a
31	SP1	chr11:108535346-108535993	A549	lung:	n/a	chr11:108535761-108535770 chr11:108535760-108535769
32	CTCF	chr11:108535588-108535738	GM19239	blood:	n/a	chr11:108535677-108535690
33	BHLHE40	chr11:108535414-108536416	GM12878	blood:	n/a	chr11:108536094-108536110
34	CTCF	chr11:108535600-108535750	GM06990	blood:	n/a	chr11:108535677-108535690
35	GTF2F1	chr11:108535481-108535900	K562	blood:	n/a	n/a
36	ELK1	chr11:108535422-108535703	K562	blood:	n/a	n/a
37	ZNF384	chr11:108535391-108535860	K562	blood:	n/a	n/a
38	FOXA1	chr11:108535254-108535744	HepG2	liver:	n/a	n/a
39	E2F4	chr11:108535528-108535986	K562	blood:	n/a	chr11:108535760-108535769 chr11:108535780-108535789 chr11:108535555-108535564 chr11:108535722-108535731 chr11:108535557-108535566 chr11:108535724-108535733 chr11:108535869-108535879 chr11:108535866-108535876 chr11:108535584-108535593
40	CTCF	chr11:108535611-108535726	GM12891	blood:	n/a	chr11:108535677-108535690
41	GABPA	chr11:108535565-108535861	HepG2	liver:	n/a	chr11:108535781-108535790 chr11:108535583-108535592 chr11:108535776-108535790 chr11:108535583-108535594 chr11:108535779-108535788 chr11:108535580-108535594 chr11:108535779-108535790
42	TBP	chr11:108535379-108535892	GM12878	blood:	n/a	n/a
43	USF1	chr11:108535556-108535907	K562	blood:	n/a	n/a
44	CTCF	chr11:108535450-108535836	GM12878	blood:	n/a	chr11:108535677-108535690
45	POLR2A	chr11:108535513-108536028	HepG2	liver:	n/a	n/a
46	CTCF	chr11:108535541-108535811	Spleen_OC	spleen:	n/a	chr11:108535677-108535690
47	CTCF	chr11:108535600-108535683	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:108535580-108535730	AoAF	blood vessel:	n/a	chr11:108535677-108535690
49	JUN	chr11:108535351-108535799	HUVEC	blood vessel:	n/a	chr11:108535701-108535710 chr11:108535556-108535565 chr11:108535723-108535732 chr11:108535555-108535568
50	EP300	chr11:108535438-108536095	GM12878	blood:	n/a	chr11:108535678-108535694 chr11:108535869-108535878 chr11:108535866-108535875

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:108535585-108535635	HCPEpiC	choroid plexus:	n/a
2	chr11:108535585-108535635	PANC-1	pancreas:	n/a
3	chr11:108535585-108535635	GM12878	blood:	n/a
4	chr11:108535585-108535635	HRE	kidney:	n/a
5	chr11:108535585-108535635	HEK293	kidney:	embryo
6	chr11:108535585-108535635	AG09319	gingival:	n/a
7	chr11:108535585-108535635	K562	blood:	n/a
8	chr11:108535585-108535635	AoSMC	blood vessel:	n/a
9	chr11:108535585-108535635	AG09309	skin:	n/a
10	chr11:108535585-108535635	HepG2	liver:	n/a
11	chr11:108535585-108535635	SK-N-SH_RA	brain:	n/a
12	chr11:108535585-108535635	AG10803	skin:	n/a
13	chr11:108535585-108535635	HNPCEpiC	eye:	n/a
14	chr11:108535585-108535635	HCM	heart:	n/a
15	chr11:108535585-108535635	RPTEC	kidney:	n/a
16	chr11:108535585-108535635	CMK	blood:	n/a
17	chr11:108535585-108535635	IMR90	lung:	fetal
18	chr11:108535585-108535635	MCF10A-Er-Src	breast:	n/a
19	chr11:108535585-108535635	GM12892	blood:	n/a
20	chr11:108535585-108535635	SKMC	muscle:	n/a
21	chr11:108535585-108535635	HAEpiC	amniotic membrane:	n/a
22	chr11:108535585-108535635	NH-A	brain:	n/a
23	chr11:108535585-108535635	BE2_C	brain:	n/a
24	chr11:108535585-108535635	SK-N-MC	brain:	n/a
25	chr11:108535585-108535635	MCF-7	breast:	n/a
26	chr11:108535585-108535635	H1-hESC	embryonic stem cell:	embryo
27	chr11:108535585-108535635	HIPEpiC	eye:	n/a
28	chr11:108535585-108535635	GM12891	blood:	n/a
29	chr11:108535585-108535635	A549	lung:	n/a
30	chr11:108535585-108535635	NT2-D1	testis:	n/a
31	chr11:108535585-108535635	Hela-S3	cervix:	n/a
32	chr11:108535585-108535635	AG04450	lung:	fetal
33	chr11:108535585-108535635	HMEC	breast:	n/a
34	chr11:108535585-108535635	GM19239	blood:	n/a
35	chr11:108535585-108535635	LNCaP	prostate:	n/a
36	chr11:108535585-108535635	HRCEpiC	kidney:	n/a
37	chr11:108535585-108535635	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:108535585-108535635	T-47D	breast:	n/a
39	chr11:108535585-108535635	NB4	blood:	n/a
40	chr11:108535585-108535635	NHDF-neo	bronchial:	n/a
41	chr11:108535585-108535635	SAEC	small airway:	n/a
42	chr11:108535585-108535635	ProgFib	skin:	n/a
43	chr11:108535585-108535635	Caco-2	colon:	n/a
44	chr11:108535585-108535635	GM06990	blood:	n/a
45	chr11:108535585-108535635	U87	brain:	n/a
46	chr11:108535585-108535635	PFSK-1	brain:	n/a
47	chr11:108535585-108535635	PrEC	prostate:	n/a
48	chr11:108535585-108535635	HRPEpiC	eye:	n/a
49	chr11:108535585-108535635	Jurkat	blood:	n/a
50	chr11:108535585-108535635	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108093199..108095517-chr11:108534185..108536757,3	K562	blood:
2	chr11:108093199..108095517-chr11:108534185..108536757,4	K562	blood:

Variant related genes	Relation type
DDX10	TF binding region
DDX10	CpG island
ENSG00000149311	Chromatin interaction
ENSG00000149308	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10732846	0.93[EUR][1000 genomes]
rs12787498	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788182	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12799569	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807367	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466502	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531470	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947928	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947929	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061680	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126570	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615721	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615734	0.85[EUR][1000 genomes]
rs2615735	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615738	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2615742	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2726876	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726880	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726887	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726891	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34746018	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35234597	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396330	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3951111	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589029	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68161639	0.81[EUR][1000 genomes]
rs7124142	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129535	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130825	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489910	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489912	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489921	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489923	0.88[EUR][1000 genomes]
rs73005544	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931638	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108535000-108536200	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr11:108535000-108536400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:108535000-108536400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:108535000-108536400	Active TSS	Brain Anterior Caudate	brain
5	chr11:108535000-108536400	Active TSS	Brain Hippocampus Middle	brain
6	chr11:108535000-108536400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:108535000-108536400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:108535000-108536400	Active TSS	Colon Smooth Muscle	Colon
9	chr11:108535000-108536400	Active TSS	Duodenum Mucosa	Duodenum
10	chr11:108535000-108536400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr11:108535000-108536400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:108535000-108536400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:108535000-108536400	Active TSS	Rectal Smooth Muscle	rectum
14	chr11:108535000-108536400	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:108535000-108536400	Active TSS	Stomach Smooth Muscle	stomach
16	chr11:108535200-108536200	Active TSS	Primary T cells from cord blood	blood
17	chr11:108535200-108536200	Active TSS	Brain Germinal Matrix	brain
18	chr11:108535200-108536400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:108535200-108536400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:108535200-108536400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:108535200-108536400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:108535200-108536400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:108535200-108536400	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr11:108535200-108536400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:108535200-108536400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:108535200-108536400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:108535200-108536400	Active TSS	Liver	Liver
28	chr11:108535200-108536400	Active TSS	Brain Angular Gyrus	brain
29	chr11:108535200-108536400	Active TSS	Colonic Mucosa	Colon
30	chr11:108535200-108536400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:108535200-108536400	Active TSS	Fetal Brain Female	brain
32	chr11:108535200-108536400	Active TSS	Fetal Heart	heart
33	chr11:108535200-108536400	Active TSS	Fetal Intestine Small	intestine
34	chr11:108535200-108536400	Active TSS	Fetal Kidney	kidney
35	chr11:108535200-108536400	Active TSS	Fetal Muscle Leg	muscle
36	chr11:108535200-108536400	Active TSS	Placenta	Placenta
37	chr11:108535200-108536400	Active TSS	Fetal Stomach	stomach
38	chr11:108535200-108536400	Active TSS	Gastric	stomach
39	chr11:108535200-108536400	Active TSS	Stomach Mucosa	stomach
40	chr11:108535200-108536400	Active TSS	HMEC	breast
41	chr11:108535200-108536400	Active TSS	NHDF-Ad	bronchial
42	chr11:108535200-108536400	Active TSS	Osteobl	bone
43	chr11:108535200-108536600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:108535200-108536600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr11:108535200-108536600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:108535200-108536600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:108535200-108536600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:108535200-108536600	Active TSS	Aorta	Aorta
49	chr11:108535200-108536600	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:108535200-108536600	Active TSS	Fetal Lung	lung

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