Variant report

Variant	rs2231817
Chromosome Location	chr11:34535624-34535625
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:34535004-34535715	MCF-7	breast:	n/a	n/a
2	HDAC2	chr11:34535098-34535628	MCF-7	breast:	n/a	chr11:34535198-34535212
3	GATA3	chr11:34535207-34535650	MCF-7	breast:	n/a	n/a
4	FOXA1	chr11:34535252-34535647	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:34535141-34535633	T-47D	breast:	n/a	n/a
6	FOXA2	chr11:34535341-34535825	A549	lung:	n/a	n/a
7	FOXA1	chr11:34535194-34535780	HepG2	liver:	n/a	n/a
8	CTCF	chr11:34535540-34535690	HCPEpiC	choroid plexus:	n/a	n/a
9	FOXA1	chr11:34535142-34535671	T-47D	breast:	n/a	n/a
10	FOXA2	chr11:34535409-34535670	HepG2	liver:	n/a	n/a
11	FOXA1	chr11:34535266-34535673	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:34535579-34535629	NHDF-neo	bronchial:	n/a
2	chr11:34535579-34535629	NHBE	bronchial:	n/a
3	chr11:34535579-34535629	SK-N-MC	brain:	n/a
4	chr11:34535579-34535629	PFSK-1	brain:	n/a
5	chr11:34535579-34535629	HL-60	blood:	n/a
6	chr11:34535579-34535629	HEEpiC	esophagus:	n/a
7	chr11:34535579-34535629	ProgFib	skin:	n/a
8	chr11:34535579-34535629	CMK	blood:	n/a
9	chr11:34535579-34535629	HCT-116	colon:	n/a
10	chr11:34535579-34535629	AG04450	lung:	fetal
11	chr11:34535579-34535629	IMR90	lung:	fetal
12	chr11:34535579-34535629	Caco-2	colon:	n/a
13	chr11:34535579-34535629	K562	blood:	n/a
14	chr11:34535579-34535629	NT2-D1	testis:	n/a
15	chr11:34535579-34535629	HRCEpiC	kidney:	n/a
16	chr11:34535579-34535629	SK-N-SH_RA	brain:	n/a
17	chr11:34535579-34535629	HPAEpiC	pulmonary alveolar:	n/a
18	chr11:34535579-34535629	Hela-S3	cervix:	n/a
19	chr11:34535579-34535629	HRPEpiC	eye:	n/a
20	chr11:34535579-34535629	HEK293	kidney:	embryo
21	chr11:34535579-34535629	RPTEC	kidney:	n/a
22	chr11:34535579-34535629	LNCaP	prostate:	n/a
23	chr11:34535579-34535629	HAEpiC	amniotic membrane:	n/a
24	chr11:34535579-34535629	U87	brain:	n/a
25	chr11:34535579-34535629	A549	lung:	n/a
26	chr11:34535579-34535629	ovcar-3	ovarian:	n/a
27	chr11:34535579-34535629	BJ	skin:	n/a
28	chr11:34535579-34535629	AG09309	skin:	n/a
29	chr11:34535579-34535629	H1-hESC	embryonic stem cell:	embryo
30	chr11:34535579-34535629	HIPEpiC	eye:	n/a
31	chr11:34535579-34535629	HNPCEpiC	eye:	n/a
32	chr11:34535579-34535629	HRE	kidney:	n/a
33	chr11:34535579-34535629	HUVEC	blood vessel:	n/a
34	chr11:34535579-34535629	AG09319	gingival:	n/a
35	chr11:34535579-34535629	HMEC	breast:	n/a
36	chr11:34535579-34535629	NH-A	brain:	n/a
37	chr11:34535579-34535629	GM06990	blood:	n/a
38	chr11:34535579-34535629	SAEC	small airway:	n/a
39	chr11:34535579-34535629	AoSMC	blood vessel:	n/a
40	chr11:34535579-34535629	AG04449	skin:	fetal
41	chr11:34535579-34535629	Jurkat	blood:	n/a
42	chr11:34535579-34535629	PANC-1	pancreas:	n/a
43	chr11:34535579-34535629	HCM	heart:	n/a
44	chr11:34535579-34535629	GM12892	blood:	n/a
45	chr11:34535579-34535629	GM12891	blood:	n/a
46	chr11:34535579-34535629	AG10803	skin:	n/a
47	chr11:34535579-34535629	HCPEpiC	choroid plexus:	n/a
48	chr11:34535579-34535629	NB4	blood:	n/a
49	chr11:34535579-34535629	GM19239	blood:	n/a
50	chr11:34535579-34535629	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
ELF5	TF binding region
ELF5	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11032737	0.82[CHB][hapmap]
rs12223688	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57377010	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7102173	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73438782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[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	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv897211	chr11:34514941-34609541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv897212	chr11:34523173-34621004	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34523800-34536800	Weak transcription	Right Atrium	heart
2	chr11:34534600-34536000	Enhancers	Brain Hippocampus Middle	brain
3	chr11:34534600-34536200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:34534600-34536200	Enhancers	Stomach Mucosa	stomach
5	chr11:34534800-34535800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:34534800-34536000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:34534800-34536000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:34534800-34536000	Weak transcription	A549	lung
9	chr11:34534800-34536200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:34535000-34535800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:34535000-34535800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:34535000-34536000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:34535000-34536400	Flanking Active TSS	HepG2	liver
14	chr11:34535200-34535800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:34535200-34536000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:34535200-34536600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:34535400-34535800	Enhancers	Adipose Nuclei	Adipose
18	chr11:34535400-34536000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:34535400-34536000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr11:34535400-34536200	Enhancers	Placenta	Placenta

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