Variant report

Variant	rs2301253
Chromosome Location	chr11:32457774-32457775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:32457770-32457797	K562	blood:	n/a	n/a
2	CTCF	chr11:32457760-32457910	HPAF	blood vessel:	n/a	n/a
3	SUZ12	chr11:32453725-32461544	NT2-D1	testis:	n/a	n/a
4	SIN3A	chr11:32457211-32458059	H1-hESC	embryonic stem cell:	n/a	n/a
5	SETDB1	chr11:32457138-32458796	K562	blood:	n/a	n/a
6	FOXA2	chr11:32457460-32458030	A549	lung:	n/a	n/a
7	FOXA1	chr11:32457601-32457925	T-47D	breast:	n/a	n/a
8	CBX3	chr11:32457000-32457776	K562	blood:	n/a	n/a
9	FOXA1	chr11:32457591-32457914	T-47D	breast:	n/a	n/a
10	CTBP2	chr11:32457051-32458830	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr11:32454143-32458628	NB4	blood:	n/a	chr11:32457467-32457477
12	POLR2A	chr11:32457590-32457999	H1-neurons	neurons:	n/a	n/a
13	SIN3AK20	chr11:32456956-32457930	PANC-1	pancreas:	n/a	n/a
14	SUZ12	chr11:32453771-32458890	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:32457690-32458203	H1-neurons	neurons:	n/a	n/a
16	SIN3AK20	chr11:32457564-32458051	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr11:32453512-32457942	NB4	blood:	n/a	n/a
18	POLR2A	chr11:32456658-32458173	PFSK-1	brain:	n/a	n/a
19	IRF1	chr11:32456995-32457790	K562	blood:	n/a	chr11:32457664-32457684 chr11:32457670-32457683
20	POLR2A	chr11:32455344-32458279	HL-60	blood:	n/a	n/a
21	E2F6	chr11:32454564-32457775	K562	blood:	n/a	chr11:32457491-32457503 chr11:32456933-32456943 chr11:32456097-32456107 chr11:32457008-32457017 chr11:32455253-32455262

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32457727-32457777	SKMC	muscle:	n/a
2	chr11:32457727-32457777	RPTEC	kidney:	n/a
3	chr11:32457727-32457777	MCF10A-Er-Src	breast:	n/a
4	chr11:32457727-32457777	HNPCEpiC	eye:	n/a
5	chr11:32457727-32457777	GM19239	blood:	n/a
6	chr11:32457727-32457777	HCPEpiC	choroid plexus:	n/a
7	chr11:32457727-32457777	AoSMC	blood vessel:	n/a
8	chr11:32457727-32457777	ProgFib	skin:	n/a
9	chr11:32457727-32457777	NHBE	bronchial:	n/a
10	chr11:32457727-32457777	HCM	heart:	n/a
11	chr11:32457727-32457777	BE2_C	brain:	n/a
12	chr11:32457727-32457777	U87	brain:	n/a
13	chr11:32457727-32457777	HEK293	kidney:	embryo
14	chr11:32457727-32457777	MCF-7	breast:	n/a
15	chr11:32457727-32457777	GM12891	blood:	n/a
16	chr11:32457727-32457777	ECC-1	luminal epithelium:	n/a
17	chr11:32457727-32457777	GM12892	blood:	n/a
18	chr11:32457727-32457777	BJ	skin:	n/a
19	chr11:32457727-32457777	NH-A	brain:	n/a
20	chr11:32457727-32457777	HRCEpiC	kidney:	n/a
21	chr11:32457727-32457777	HCF	heart:	n/a
22	chr11:32457727-32457777	Hepatocyte	liver:	n/a
23	chr11:32457727-32457777	Jurkat	blood:	n/a
24	chr11:32457727-32457777	T-47D	breast:	n/a
25	chr11:32457727-32457777	HIPEpiC	eye:	n/a
26	chr11:32457727-32457777	HEEpiC	esophagus:	n/a
27	chr11:32457727-32457777	PrEC	prostate:	n/a
28	chr11:32457727-32457777	IMR90	lung:	fetal
29	chr11:32457727-32457777	HUVEC	blood vessel:	n/a
30	chr11:32457727-32457777	K562	blood:	n/a
31	chr11:32457727-32457777	ovcar-3	ovarian:	n/a
32	chr11:32457727-32457777	PANC-1	pancreas:	n/a
33	chr11:32457727-32457777	NT2-D1	testis:	n/a
34	chr11:32457727-32457777	AG10803	skin:	n/a
35	chr11:32457727-32457777	NHDF-neo	bronchial:	n/a
36	chr11:32457727-32457777	CMK	blood:	n/a
37	chr11:32457727-32457777	AG09309	skin:	n/a
38	chr11:32457727-32457777	PFSK-1	brain:	n/a
39	chr11:32457727-32457777	AG04450	lung:	fetal
40	chr11:32457727-32457777	H1-hESC	embryonic stem cell:	embryo
41	chr11:32457727-32457777	HRPEpiC	eye:	n/a
42	chr11:32457727-32457777	Caco-2	colon:	n/a
43	chr11:32457727-32457777	AG04449	skin:	fetal
44	chr11:32457727-32457777	HRE	kidney:	n/a
45	chr11:32457727-32457777	NB4	blood:	n/a
46	chr11:32457727-32457777	GM06990	blood:	n/a
47	chr11:32457727-32457777	SAEC	small airway:	n/a
48	chr11:32457727-32457777	GM12878	blood:	n/a
49	chr11:32457727-32457777	SK-N-SH_RA	brain:	n/a
50	chr11:32457727-32457777	SK-N-MC	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32455369..32457971-chr11:32914210..32916339,2	K562	blood:
2	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
3	chr11:32455134..32458517-chr11:32603988..32607695,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3M-2	chr11:32457585-32458383	NONHSAT018663
2	lnc-EIF3M-2	chr11:32457585-32460136	NONHSAT018664

No data

Variant related genes	Relation type
WT1	TF binding region
WT1-AS	TF binding region
WT1	CpG island
WT1-AS	CpG island
ENSG00000149100	Chromatin interaction
ENSG00000060749	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10742277	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11031783	0.88[ASN][1000 genomes]
rs11031784	0.88[ASN][1000 genomes]
rs2234580	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2234585	0.81[ASN][1000 genomes]
rs2301250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301251	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809060	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809061	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809062	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3858446	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858447	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858448	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3886325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3930513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4140413	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5030171	0.81[ASN][1000 genomes]
rs5030176	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030178	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030179	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110547	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7120686	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1051559	chr11:32447347-32465233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32453400-32459600	Active TSS	Right Atrium	heart
2	chr11:32454600-32458600	Bivalent/Poised TSS	Left Ventricle	heart
3	chr11:32454600-32458800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr11:32454600-32459800	Active TSS	Ovary	ovary
5	chr11:32454800-32457800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:32454800-32457800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:32454800-32458200	Bivalent Enhancer	Esophagus	oesophagus
8	chr11:32454800-32458600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr11:32455000-32459400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
10	chr11:32455200-32458200	Enhancers	Pancreas	Pancrea
11	chr11:32455800-32458000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr11:32455800-32459000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:32456000-32458600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:32456000-32458600	Bivalent Enhancer	Lung	lung
15	chr11:32456200-32458200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:32456200-32458600	Enhancers	Gastric	stomach
17	chr11:32456400-32458400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr11:32456400-32458600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
19	chr11:32456400-32459000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
20	chr11:32456600-32457800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:32456800-32457800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:32456800-32458200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:32456800-32458200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr11:32456800-32458800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr11:32456800-32459600	Active TSS	Right Ventricle	heart
26	chr11:32456800-32460400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr11:32457000-32458000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:32457000-32462600	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr11:32457200-32457800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:32457200-32457800	Bivalent Enhancer	Primary T cells from cord blood	blood
31	chr11:32457200-32457800	Bivalent Enhancer	Brain Hippocampus Middle	brain
32	chr11:32457200-32457800	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr11:32457200-32458000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:32457200-32458000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:32457200-32458000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr11:32457200-32458000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
37	chr11:32457200-32458000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
38	chr11:32457200-32458000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:32457200-32458000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:32457200-32458000	Bivalent Enhancer	Fetal Brain Male	brain
41	chr11:32457200-32458000	Bivalent Enhancer	Fetal Lung	lung
42	chr11:32457200-32458000	Flanking Active TSS	Spleen	Spleen
43	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
46	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr11:32457200-32458200	Flanking Active TSS	K562	blood
48	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr11:32457200-32458400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr11:32457200-32458400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood

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