Variant report

Variant	rs2234449
Chromosome Location	chr11:5529936-5529937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:5529934-5530308	K562	blood:	n/a	n/a
2	ZNF143	chr11:5529915-5530118	K562	blood:	n/a	n/a
3	FOXA1	chr11:5529765-5530173	HepG2	liver:	n/a	n/a
4	FOXA2	chr11:5529858-5530135	A549	lung:	n/a	n/a
5	FOXA2	chr11:5529870-5530137	HepG2	liver:	n/a	n/a
6	CTCF	chr11:5529935-5530201	K562	blood:	n/a	n/a
7	CTCF	chr11:5529920-5530070	Caco-2	colon:	n/a	n/a
8	MAX	chr11:5529883-5530477	K562	blood:	n/a	n/a
9	HCFC1	chr11:5529936-5530304	K562	blood:	n/a	n/a
10	FOXA2	chr11:5529784-5530139	A549	lung:	n/a	n/a
11	TEAD4	chr11:5529842-5530124	K562	blood:	n/a	n/a
12	FOXA1	chr11:5529868-5530101	T-47D	breast:	n/a	n/a
13	CTCF	chr11:5529880-5530030	A549	lung:	n/a	n/a
14	CTCF	chr11:5529880-5530030	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr11:5529880-5530207	K562	blood:	n/a	n/a
16	TEAD4	chr11:5529801-5530167	HepG2	liver:	n/a	n/a
17	FOXA1	chr11:5529814-5530278	HepG2	liver:	n/a	n/a
18	FOXA1	chr11:5529840-5530277	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:5529900-5530208	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5033143-5038367..11:5527719-5533869	Hela-S3	cervix:
2	11:4988858-5002113..11:5527719-5533869	Hela-S3	cervix:
3	chr11:5528658..5530872-chr11:5551593..5553156,2	K562	blood:
4	chr11:5523708..5530495-chr11:5543485..5554743,19	K562	blood:
5	chr11:5495902..5498056-chr11:5528624..5530826,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
HBG2	TF binding region
HBE1	TF binding region
ENSG00000167355	TF binding region
ENSG00000225003	Chromatin interaction
ENSG00000249633	Chromatin interaction
ENSG00000224295	Chromatin interaction
ENSG00000224300	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11038336	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv832057	chr11:5375585-5576200	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv467670	chr11:5506034-5550630	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv553240	chr11:5506034-5550630	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5528800-5530200	Weak transcription	Gastric	stomach
2	chr11:5529200-5530000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:5529400-5530000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:5529600-5531400	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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