Variant report

Variant	rs11864313
Chromosome Location	chr16:74847600-74847601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:74808159..74809197-chr16:74846688..74848115,4	K562	blood:
2	chr16:74846723..74847755-chr16:74896368..74897323,9	K562	blood:
3	chr16:74846943..74848881-chr16:75143299..75145856,2	MCF-7	breast:
4	chr16:74343503..74344314-chr16:74847131..74847664,2	MCF-7	breast:
5	chr16:74846665..74847640-chr16:74896133..74897263,15	MCF-7	breast:
6	chr16:74701971..74704127-chr16:74845160..74847638,2	MCF-7	breast:
7	chr16:74800666..74801203-chr16:74846970..74847645,2	MCF-7	breast:
8	chr16:74743004..74743985-chr16:74846664..74847648,5	K562	blood:
9	chr16:74743044..74744187-chr16:74846300..74847985,46	MCF-7	breast:
10	chr16:74733905..74734725-chr16:74846845..74847676,2	MCF-7	breast:
11	chr16:74742777..74743959-chr16:74846396..74847939,16	MCF-7	breast:
12	chr16:74846668..74847725-chr16:74896168..74897246,10	MCF-7	breast:
13	chr16:74847093..74847652-chr16:75164460..75164989,2	MCF-7	breast:
14	chr16:74811119..74813847-chr16:74847570..74850500,2	MCF-7	breast:
15	chr16:74847095..74847642-chr20:56197443..56198071,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000103089	Chromatin interaction
ENSG00000259972	Chromatin interaction
ENSG00000168404	Chromatin interaction
ENSG00000247033	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1024503	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514386	1.00[ASN][1000 genomes]
rs11645307	1.00[ASN][1000 genomes]
rs11863300	1.00[ASN][1000 genomes]
rs11864349	1.00[ASN][1000 genomes]
rs11866550	1.00[ASN][1000 genomes]
rs12443797	0.84[EUR][1000 genomes]
rs12444462	1.00[ASN][1000 genomes]
rs12444618	1.00[ASN][1000 genomes]
rs12445200	1.00[ASN][1000 genomes]
rs12446147	1.00[ASN][1000 genomes]
rs12447968	1.00[ASN][1000 genomes]
rs12919626	1.00[ASN][1000 genomes]
rs12921263	1.00[ASN][1000 genomes]
rs14308	1.00[ASN][1000 genomes]
rs28810133	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34130324	1.00[ASN][1000 genomes]
rs34393456	1.00[ASN][1000 genomes]
rs34398985	1.00[ASN][1000 genomes]
rs34937987	1.00[ASN][1000 genomes]
rs34992867	1.00[ASN][1000 genomes]
rs35038783	1.00[ASN][1000 genomes]
rs35173843	1.00[ASN][1000 genomes]
rs35195349	1.00[ASN][1000 genomes]
rs35456018	1.00[ASN][1000 genomes]
rs35937344	1.00[ASN][1000 genomes]
rs4887788	1.00[ASN][1000 genomes]
rs4888281	1.00[ASN][1000 genomes]
rs4888307	1.00[ASN][1000 genomes]
rs4985359	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55727944	1.00[ASN][1000 genomes]
rs55836977	1.00[ASN][1000 genomes]
rs55859029	1.00[ASN][1000 genomes]
rs56009261	1.00[ASN][1000 genomes]
rs56313952	1.00[ASN][1000 genomes]
rs58303079	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62052860	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62052861	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71392613	1.00[ASN][1000 genomes]
rs71392614	1.00[ASN][1000 genomes]
rs71392615	1.00[ASN][1000 genomes]
rs7203228	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794783	1.00[ASN][1000 genomes]
rs72796668	1.00[ASN][1000 genomes]
rs72796671	1.00[ASN][1000 genomes]
rs72796672	1.00[ASN][1000 genomes]
rs72796678	1.00[ASN][1000 genomes]
rs72796696	1.00[ASN][1000 genomes]
rs72798603	1.00[ASN][1000 genomes]
rs72798608	1.00[ASN][1000 genomes]
rs72798613	1.00[ASN][1000 genomes]
rs72798621	1.00[ASN][1000 genomes]
rs72798647	1.00[ASN][1000 genomes]
rs72798648	1.00[ASN][1000 genomes]
rs74024559	1.00[ASN][1000 genomes]
rs74024565	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047659	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062012	1.00[ASN][1000 genomes]
rs9937139	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
6	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	esv2761913	chr16:74828988-74876348	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74844600-74847600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr16:74845600-74847600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr16:74846000-74847600	Enhancers	Brain Angular Gyrus	brain
4	chr16:74846000-74847600	Enhancers	Brain Hippocampus Middle	brain
5	chr16:74846000-74848000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:74846200-74847600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr16:74846200-74847600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr16:74846200-74848000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr16:74846200-74857400	Weak transcription	Gastric	stomach
10	chr16:74846400-74847600	Enhancers	Stomach Mucosa	stomach
11	chr16:74846400-74851000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:74846800-74847600	Enhancers	Fetal Intestine Small	intestine
13	chr16:74847000-74847600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr16:74847000-74847600	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:74847000-74847600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:74847000-74847600	Enhancers	Brain Anterior Caudate	brain
17	chr16:74847000-74847600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr16:74847000-74847600	Enhancers	Thymus	Thymus
19	chr16:74847000-74847600	Enhancers	Dnd41	blood
20	chr16:74847000-74847600	Flanking Active TSS	HepG2	liver
21	chr16:74847000-74847800	Enhancers	Brain Cingulate Gyrus	brain
22	chr16:74847200-74847600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:74847200-74847600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:74847200-74847600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:74847200-74847600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:74847200-74847600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:74847200-74847600	Enhancers	Colon Smooth Muscle	Colon
28	chr16:74847200-74847600	Enhancers	Duodenum Mucosa	Duodenum
29	chr16:74847200-74847600	Enhancers	Fetal Lung	lung
30	chr16:74847200-74847600	Flanking Active TSS	Hela-S3	cervix
31	chr16:74847200-74847600	Enhancers	K562	blood
32	chr16:74847200-74847600	Active TSS	NHEK	skin
33	chr16:74847200-74847800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr16:74847200-74847800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr16:74847200-74848000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:74847400-74847600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:74847400-74847600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr16:74847400-74847600	Flanking Active TSS	A549	lung
39	chr16:74847400-74847800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr16:74847600-74848000	Weak transcription	Thymus	Thymus
41	chr16:74847600-74848000	Bivalent Enhancer	HepG2	liver
42	chr16:74847600-74850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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