Variant report

Variant	rs911822
Chromosome Location	chr14:38060427-38060428
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:38060286-38060704	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr14:38060292-38061770	A549	lung:	n/a	n/a
3	SIN3AK20	chr14:38060259-38066080	MCF-7	breast:	n/a	n/a
4	HDAC2	chr14:38060392-38062489	MCF-7	breast:	n/a	n/a
5	POLR2A	chr14:38059249-38060948	HepG2	liver:	n/a	n/a
6	FOXA1	chr14:38060408-38061116	T-47D	breast:	n/a	n/a
7	POLR2A	chr14:38059317-38060922	HepG2	liver:	n/a	n/a
8	STAT3	chr14:38060324-38060441	MCF10A-Er-Src	breast:	n/a	n/a
9	HEY1	chr14:38059398-38060907	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:38059381-38060945	HepG2	liver:	n/a	n/a
11	FOXA2	chr14:38057014-38060700	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:38060381-38060889	HepG2	liver:	n/a	n/a
13	CTCF	chr14:38060399-38061396	MCF-7	breast:	n/a	n/a
14	POLR2A	chr14:38059290-38065931	MCF-7	breast:	n/a	n/a
15	MAX	chr14:38060376-38062437	MCF-7	breast:	n/a	n/a
16	JUND	chr14:38060359-38062588	MCF-7	breast:	n/a	n/a
17	FOXA1	chr14:38060279-38060631	T-47D	breast:	n/a	n/a
18	JUND	chr14:38059356-38061334	T-47D	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37744550..37746871-chr14:38059550..38062065,2	MCF-7	breast:
2	chr14:38043804..38045954-chr14:38058287..38060752,2	K562	blood:
3	chr14:38003108..38005323-chr14:38059907..38061947,2	MCF-7	breast:
4	chr14:38055708..38063394-chr14:38063498..38068319,8	K562	blood:
5	chr14:38059647..38062011-chr19:58890686..58893348,2	MCF-7	breast:
6	chr14:38059772..38062294-chr6:35436080..35437583,2	MCF-7	breast:
7	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
8	chr14:38058730..38062004-chr14:38152244..38154718,3	MCF-7	breast:
9	chr14:38010426..38020494-chr14:38050537..38062032,33	MCF-7	breast:
10	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
11	chr14:38009151..38011590-chr14:38058939..38061053,2	MCF-7	breast:
12	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:

No data

Variant related genes	Relation type
TTC6	TF binding region
ENSG00000152475	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000207046	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000129514	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12587630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2181180	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34249416	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742595	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4898647	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59255463	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59290731	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72674251	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901644	chr14:38049107-38064738	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv901645	chr14:38051035-38064215	Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv901647	chr14:38052110-38064738	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv901648	chr14:38052110-38065813	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv901649	chr14:38053334-38065813	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38053400-38062800	Weak transcription	Hela-S3	cervix
2	chr14:38056200-38065600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
3	chr14:38056400-38066000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr14:38057000-38065400	Active TSS	Liver	Liver
5	chr14:38057800-38060600	Bivalent/Poised TSS	Fetal Stomach	stomach
6	chr14:38057800-38060800	Weak transcription	Pancreas	Pancrea
7	chr14:38058400-38060600	Weak transcription	Lung	lung
8	chr14:38058600-38062200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr14:38059400-38061000	Transcr. at gene 5' and 3'	HepG2	liver
10	chr14:38059600-38060800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:38059600-38063200	Bivalent/Poised TSS	Stomach Mucosa	stomach
12	chr14:38059800-38065600	Active TSS	A549	lung
13	chr14:38060000-38060600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
14	chr14:38060000-38063200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
15	chr14:38060200-38062400	Bivalent/Poised TSS	Colonic Mucosa	Colon
16	chr14:38060400-38060600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:38060400-38060600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:38060400-38060600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr14:38060400-38060600	Active TSS	Gastric	stomach
20	chr14:38060400-38060800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:38060400-38060800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr14:38060400-38060800	Bivalent/Poised TSS	Fetal Lung	lung
23	chr14:38060400-38061000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr14:38060400-38061200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr14:38060400-38061600	Bivalent/Poised TSS	Esophagus	oesophagus
26	chr14:38060400-38062200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr14:38060400-38062400	Bivalent/Poised TSS	Small Intestine	intestine
28	chr14:38060400-38064000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum

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