Variant report

Variant	rs11677240
Chromosome Location	chr2:11820910-11820911
allele	A/G
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:1)
LncRNA
region (count:0)
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	EP300	chr2:11820559-11820924	Hela-S3	cervix:	n/a	n/a
2	FOXA1	chr2:11820426-11820935	HepG2	liver:	n/a	n/a
3	HNF4A	chr2:11820464-11821056	HepG2	liver:	n/a	chr2:11820981-11820993 chr2:11820981-11820993 chr2:11820980-11820993
4	NR2F2	chr2:11820313-11821131	HepG2	liver:	n/a	n/a
5	MAX	chr2:11820520-11820952	Hela-S3	cervix:	n/a	n/a
6	HEY1	chr2:11820630-11821028	HepG2	liver:	n/a	n/a
7	NR2F2	chr2:11820136-11821220	MCF-7	breast:	n/a	n/a
8	HDAC2	chr2:11820448-11820938	MCF-7	breast:	n/a	chr2:11820871-11820885
9	HNF4A	chr2:11820825-11821059	HepG2	liver:	n/a	chr2:11820981-11820993 chr2:11820981-11820993 chr2:11820980-11820993
10	NR2F2	chr2:11820268-11821061	MCF-7	breast:	n/a	n/a
11	MAX	chr2:11820421-11822630	HepG2	liver:	n/a	n/a
12	RXRA	chr2:11820466-11821049	HepG2	liver:	n/a	chr2:11820980-11820993
13	NR3C1	chr2:11820551-11821039	A549	lung:	n/a	chr2:11820864-11820881
14	MYBL2	chr2:11820401-11821044	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:11820796-11821111	HepG2	liver:	n/a	n/a
16	MYBL2	chr2:11820478-11821111	HepG2	liver:	n/a	n/a
17	FOSL2	chr2:11820385-11820915	MCF-7	breast:	n/a	chr2:11820672-11820683
18	POLR2A	chr2:11820905-11820923	HepG2	liver:	n/a	n/a
19	CTCF	chr2:11820780-11820930	HCPEpiC	choroid plexus:	n/a	n/a
20	NR3C1	chr2:11820493-11821078	A549	lung:	n/a	chr2:11820864-11820881
21	FOSL2	chr2:11820399-11821100	HepG2	liver:	n/a	chr2:11820672-11820683

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11820862-11820912	SK-N-SH	brain:	n/a
2	chr2:11820862-11820912	GM19239	blood:	n/a
3	chr2:11820862-11820912	RPTEC	kidney:	n/a
4	chr2:11820862-11820912	HUVEC	blood vessel:	n/a
5	chr2:11820862-11820912	HRE	kidney:	n/a
6	chr2:11820862-11820912	ProgFib	skin:	n/a
7	chr2:11820862-11820912	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:11820862-11820912	HepG2	liver:	n/a
9	chr2:11820862-11820912	Hepatocyte	liver:	n/a
10	chr2:11820862-11820912	H1-hESC	embryonic stem cell:	embryo
11	chr2:11820862-11820912	GM06990	blood:	n/a
12	chr2:11820862-11820912	HCPEpiC	choroid plexus:	n/a
13	chr2:11820862-11820912	NB4	blood:	n/a
14	chr2:11820862-11820912	AG09319	gingival:	n/a
15	chr2:11820862-11820912	ovcar-3	ovarian:	n/a
16	chr2:11820862-11820912	Hela-S3	cervix:	n/a
17	chr2:11820862-11820912	AG04449	skin:	fetal
18	chr2:11820862-11820912	MCF-7	breast:	n/a
19	chr2:11820862-11820912	GM12891	blood:	n/a
20	chr2:11820862-11820912	Jurkat	blood:	n/a
21	chr2:11820862-11820912	ECC-1	luminal epithelium:	n/a
22	chr2:11820862-11820912	AG10803	skin:	n/a
23	chr2:11820862-11820912	U87	brain:	n/a
24	chr2:11820862-11820912	HCT-116	colon:	n/a
25	chr2:11820862-11820912	HAEpiC	amniotic membrane:	n/a
26	chr2:11820862-11820912	HEK293	kidney:	embryo
27	chr2:11820862-11820912	LNCaP	prostate:	n/a
28	chr2:11820862-11820912	K562	blood:	n/a
29	chr2:11820862-11820912	PrEC	prostate:	n/a
30	chr2:11820862-11820912	AG09309	skin:	n/a
31	chr2:11820862-11820912	Caco-2	colon:	n/a
32	chr2:11820862-11820912	GM12892	blood:	n/a
33	chr2:11820862-11820912	NHDF-neo	bronchial:	n/a
34	chr2:11820862-11820912	T-47D	breast:	n/a
35	chr2:11820862-11820912	PFSK-1	brain:	n/a
36	chr2:11820862-11820912	HRPEpiC	eye:	n/a
37	chr2:11820862-11820912	NT2-D1	testis:	n/a
38	chr2:11820862-11820912	HCF	heart:	n/a
39	chr2:11820862-11820912	SKMC	muscle:	n/a
40	chr2:11820862-11820912	HIPEpiC	eye:	n/a
41	chr2:11820862-11820912	NH-A	brain:	n/a
42	chr2:11820862-11820912	GM12878	blood:	n/a
43	chr2:11820862-11820912	HMEC	breast:	n/a
44	chr2:11820862-11820912	CMK	blood:	n/a
45	chr2:11820862-11820912	BE2_C	brain:	n/a
46	chr2:11820862-11820912	AoSMC	blood vessel:	n/a
47	chr2:11820862-11820912	SK-N-SH_RA	brain:	n/a
48	chr2:11820862-11820912	MCF10A-Er-Src	breast:	n/a
49	chr2:11820862-11820912	HCM	heart:	n/a
50	chr2:11820862-11820912	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228496	TF binding region
ENSG00000228496	CpG island
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1036393	1.00[ASN][1000 genomes]
rs11538448	1.00[ASN][1000 genomes]
rs11675463	1.00[ASN][1000 genomes]
rs11676175	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11683719	1.00[ASN][1000 genomes]
rs11693935	1.00[AFR][1000 genomes]
rs11890442	1.00[ASN][1000 genomes]
rs11892871	1.00[ASN][1000 genomes]
rs11894146	1.00[ASN][1000 genomes]
rs11894751	1.00[ASN][1000 genomes]
rs13421972	1.00[ASN][1000 genomes]
rs1561010	1.00[ASN][1000 genomes]
rs1561011	1.00[ASN][1000 genomes]
rs16857679	1.00[ASN][1000 genomes]
rs34592059	1.00[ASN][1000 genomes]
rs34928762	1.00[ASN][1000 genomes]
rs45509591	1.00[ASN][1000 genomes]
rs55890755	1.00[ASN][1000 genomes]
rs56788115	1.00[ASN][1000 genomes]
rs57097271	1.00[ASN][1000 genomes]
rs59085046	1.00[ASN][1000 genomes]
rs59208217	1.00[ASN][1000 genomes]
rs59408163	1.00[ASN][1000 genomes]
rs60662456	1.00[ASN][1000 genomes]
rs61239977	1.00[ASN][1000 genomes]
rs62113260	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62113263	1.00[ASN][1000 genomes]
rs62113264	1.00[ASN][1000 genomes]
rs62113265	1.00[ASN][1000 genomes]
rs62113266	1.00[ASN][1000 genomes]
rs62113267	1.00[ASN][1000 genomes]
rs62113293	1.00[ASN][1000 genomes]
rs62113296	1.00[ASN][1000 genomes]
rs62113297	1.00[ASN][1000 genomes]
rs62113298	1.00[ASN][1000 genomes]
rs62113299	1.00[ASN][1000 genomes]
rs62113300	1.00[ASN][1000 genomes]
rs62113302	1.00[ASN][1000 genomes]
rs62113303	1.00[ASN][1000 genomes]
rs62113305	1.00[ASN][1000 genomes]
rs62113307	1.00[ASN][1000 genomes]
rs62113308	1.00[ASN][1000 genomes]
rs62113309	1.00[ASN][1000 genomes]
rs62113310	1.00[ASN][1000 genomes]
rs62113313	1.00[ASN][1000 genomes]
rs62113354	1.00[ASN][1000 genomes]
rs62113357	1.00[ASN][1000 genomes]
rs62114961	1.00[ASN][1000 genomes]
rs62114962	1.00[ASN][1000 genomes]
rs62114963	1.00[ASN][1000 genomes]
rs62114964	1.00[ASN][1000 genomes]
rs62114967	1.00[ASN][1000 genomes]
rs62114968	1.00[ASN][1000 genomes]
rs62114969	1.00[AFR][1000 genomes]
rs62116185	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62116208	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62116209	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62116212	1.00[AFR][1000 genomes]
rs6707885	1.00[ASN][1000 genomes]
rs6716999	1.00[ASN][1000 genomes]
rs6717771	1.00[ASN][1000 genomes]
rs6726960	1.00[ASN][1000 genomes]
rs6744695	1.00[ASN][1000 genomes]
rs6744803	1.00[ASN][1000 genomes]
rs71446421	1.00[ASN][1000 genomes]
rs72773987	1.00[ASN][1000 genomes]
rs72773997	1.00[ASN][1000 genomes]
rs72773999	1.00[ASN][1000 genomes]
rs72774000	1.00[ASN][1000 genomes]
rs7566112	1.00[ASN][1000 genomes]
rs7566488	1.00[ASN][1000 genomes]
rs7569901	1.00[ASN][1000 genomes]
rs7570139	1.00[ASN][1000 genomes]
rs7575000	1.00[ASN][1000 genomes]
rs7593837	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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11816400-11823200	Enhancers	Ovary	ovary
2	chr2:11818000-11821200	Weak transcription	Right Ventricle	heart
3	chr2:11818000-11828200	Weak transcription	Right Atrium	heart
4	chr2:11818200-11822400	Enhancers	Psoas Muscle	Psoas
5	chr2:11818400-11828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:11818400-11828400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:11818600-11822600	Enhancers	Pancreas	Pancrea
8	chr2:11818800-11821800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11818800-11824000	Weak transcription	Spleen	Spleen
10	chr2:11819400-11821000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr2:11819400-11822000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:11819400-11823000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:11819800-11821000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr2:11819800-11821200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:11819800-11821400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr2:11820000-11821200	Enhancers	Fetal Muscle Leg	muscle
17	chr2:11820000-11821600	Enhancers	NHLF	lung
18	chr2:11820000-11822800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:11820200-11821000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:11820200-11821400	Flanking Active TSS	Hela-S3	cervix
21	chr2:11820200-11822200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:11820400-11821000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:11820400-11821000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr2:11820400-11821200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:11820400-11821200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:11820400-11821400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:11820400-11821600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:11820400-11822600	Enhancers	Fetal Intestine Small	intestine
29	chr2:11820600-11821000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:11820600-11821800	Enhancers	Brain Substantia Nigra	brain
31	chr2:11820600-11822200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:11820600-11822800	Enhancers	Fetal Intestine Large	intestine
33	chr2:11820800-11821000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:11820800-11821400	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr2:11820800-11821600	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:11820800-11822000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:11820800-11822600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:11820800-11824400	Enhancers	Skeletal Muscle Female	skeletal muscle

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