Variant report

Variant	rs16955744
Chromosome Location	chr15:30048660-30048661
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30048520..30050804-chr15:30113395..30115611,2	MCF-7	breast:
2	chr15:30047903..30050810-chr15:30051700..30053369,2	K562	blood:

Variant related genes	Relation type
ENSG00000259523	Chromatin interaction
ENSG00000104067	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12101706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955736	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28526716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45467499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45553536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58713741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60681790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7174671	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7177230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74008547	1.00[AMR][1000 genomes]
rs8038593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8038737	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30016600-30052000	Weak transcription	Spleen	Spleen
2	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
3	chr15:30018200-30052000	Weak transcription	Gastric	stomach
4	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
5	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
6	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
7	chr15:30026000-30051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:30026000-30057600	Weak transcription	Esophagus	oesophagus
9	chr15:30028200-30049200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:30029800-30056000	Weak transcription	K562	blood
11	chr15:30030400-30060800	Weak transcription	Hela-S3	cervix
12	chr15:30030400-30067000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:30033200-30051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:30033600-30049000	Weak transcription	HUVEC	blood vessel
15	chr15:30034200-30051400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:30034400-30051800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:30034400-30051800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:30034400-30057800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:30034800-30052800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:30035000-30048800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:30035000-30048800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:30035000-30053200	Weak transcription	Psoas Muscle	Psoas
23	chr15:30035400-30048800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:30042000-30051200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:30042000-30051400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:30042000-30051400	Weak transcription	HepG2	liver
27	chr15:30042000-30057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:30042000-30061800	Weak transcription	Pancreas	Pancrea
29	chr15:30042200-30048800	Weak transcription	Ovary	ovary
30	chr15:30042200-30049000	Weak transcription	Fetal Heart	heart
31	chr15:30042200-30050800	Weak transcription	Left Ventricle	heart
32	chr15:30042200-30051800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:30042200-30051800	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:30042200-30052000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:30042200-30053200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:30042200-30057000	Weak transcription	Lung	lung
37	chr15:30042200-30057800	Weak transcription	Right Ventricle	heart
38	chr15:30042400-30052200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:30042600-30052600	Weak transcription	Fetal Intestine Small	intestine
40	chr15:30042600-30052600	Weak transcription	Fetal Stomach	stomach
41	chr15:30043400-30049000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:30043600-30050000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:30043600-30053400	Weak transcription	NHDF-Ad	bronchial
44	chr15:30044600-30064000	Strong transcription	Fetal Intestine Large	intestine
45	chr15:30046400-30064400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:30046600-30048800	Weak transcription	HSMMtube	muscle
47	chr15:30047000-30048800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr15:30047000-30049000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:30047000-30051200	Weak transcription	Fetal Kidney	kidney
50	chr15:30047000-30065000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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