Variant report

Variant	rs13331680
Chromosome Location	chr16:81271064-81271065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr16:81270970-81271293	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr16:81270995-81271195	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr16:81271052-81271351	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr16:81270943-81271375	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr16:81270932-81271192	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr16:81270973-81271173	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr16:81270999-81271210	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr16:81270970-81271194	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81266786..81269384-chr16:81269942..81271960,2	MCF-7	breast:

Variant related genes	Relation type
BCMO1	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11150374	0.82[ASW][hapmap]
rs9925437	1.00[ASW][hapmap];0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
7	nsv457573	chr16:81204081-81294893	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv573354	chr16:81204081-81294893	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv527288	chr16:81204188-81310947	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1057230	chr16:81204423-81299509	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv1067235	chr16:81204423-81303759	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1063482	chr16:81207377-81303759	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	nsv1064529	chr16:81223243-81303759	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	esv2830030	chr16:81238818-81303759	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv1061931	chr16:81247114-81273163	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	nsv1058690	chr16:81247114-81280613	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv2761925	chr16:81262516-81278038	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv2755860	chr16:81262516-81333568	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81269600-81271600	Weak transcription	Fetal Intestine Small	intestine
2	chr16:81269800-81271200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:81270200-81272000	Weak transcription	Left Ventricle	heart
4	chr16:81270800-81271600	Enhancers	Fetal Heart	heart
5	chr16:81270800-81271800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:81270800-81271800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:81270800-81271800	Enhancers	Duodenum Mucosa	Duodenum
8	chr16:81270800-81271800	Enhancers	Stomach Smooth Muscle	stomach
9	chr16:81270800-81272000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr16:81270800-81273200	Enhancers	Fetal Muscle Leg	muscle
11	chr16:81271000-81271200	Enhancers	Esophagus	oesophagus
12	chr16:81271000-81271200	Enhancers	Rectal Smooth Muscle	rectum
13	chr16:81271000-81271400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr16:81271000-81271400	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr16:81271000-81271600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:81271000-81271600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr16:81271000-81271600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:81271000-81271600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr16:81271000-81271600	Enhancers	A549	lung
20	chr16:81271000-81271800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr16:81271000-81271800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr16:81271000-81271800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr16:81271000-81271800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:81271000-81271800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:81271000-81271800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:81271000-81271800	Enhancers	Brain Hippocampus Middle	brain
27	chr16:81271000-81271800	Enhancers	Fetal Kidney	kidney
28	chr16:81271000-81271800	Enhancers	Stomach Mucosa	stomach
29	chr16:81271000-81271800	Enhancers	NH-A	brain
30	chr16:81271000-81271800	Enhancers	NHEK	skin
31	chr16:81271000-81272000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr16:81271000-81272000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:81271000-81272000	Enhancers	Liver	Liver
34	chr16:81271000-81272000	Enhancers	Brain Cingulate Gyrus	brain
35	chr16:81271000-81272000	Enhancers	Fetal Muscle Trunk	muscle
36	chr16:81271000-81272000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr16:81271000-81272000	Enhancers	HMEC	breast
38	chr16:81271000-81272200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr16:81271000-81272600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:81271000-81273000	Enhancers	Pancreas	Pancrea
41	chr16:81271000-81273600	Enhancers	H1 Cell Line	embryonic stem cell

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