Variant report

Variant	rs544918033
Chromosome Location	chr13:111157554-111157555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111156722..111158386-chr13:111162360..111164730,2	MCF-7	breast:
2	chr13:111155022..111158226-chr13:111364288..111368980,5	K562	blood:

Variant related genes	Relation type
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	16 gene(s)	inside rSNPs	diseases
5	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv901009	chr13:111134780-111176393	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
8	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	nsv563121	chr13:111155363-111168488	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	n/a
10	nsv984479	chr13:111157297-111176429	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr13:111109600-111158800	Strong transcription	Ovary	ovary
3	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
6	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
8	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
9	chr13:111131400-111158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:111131800-111159400	Weak transcription	Esophagus	oesophagus
11	chr13:111132200-111158400	Strong transcription	Colon Smooth Muscle	Colon
12	chr13:111132200-111158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:111139600-111157800	Strong transcription	Placenta	Placenta
14	chr13:111139600-111166400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:111139600-111166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr13:111139800-111158000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:111140800-111166600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:111141000-111159000	Strong transcription	NHLF	lung
20	chr13:111141600-111165600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:111143400-111166800	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr13:111143600-111159000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:111145800-111160200	Weak transcription	Psoas Muscle	Psoas
24	chr13:111147000-111158800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr13:111147000-111159400	Strong transcription	Fetal Lung	lung
26	chr13:111147200-111159000	Strong transcription	Aorta	Aorta
27	chr13:111149600-111159000	Strong transcription	Fetal Stomach	stomach
28	chr13:111149600-111161800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:111149800-111162400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr13:111150000-111159200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr13:111150000-111165000	Weak transcription	Brain Angular Gyrus	brain
32	chr13:111150800-111167200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:111151400-111157800	Weak transcription	Gastric	stomach
34	chr13:111151400-111157800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:111151400-111159200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:111152600-111159400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:111152600-111168000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:111152800-111159000	Strong transcription	HUVEC	blood vessel
39	chr13:111152800-111165800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr13:111153000-111157800	Strong transcription	Fetal Intestine Small	intestine
41	chr13:111153000-111159200	Strong transcription	NHEK	skin
42	chr13:111153000-111168000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:111153200-111158600	Strong transcription	Rectal Smooth Muscle	rectum
44	chr13:111153200-111158800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr13:111153400-111158400	Weak transcription	Liver	Liver
46	chr13:111153400-111158800	Strong transcription	Fetal Muscle Leg	muscle
47	chr13:111153400-111159000	Weak transcription	A549	lung
48	chr13:111153400-111159200	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:111153400-111162000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr13:111153400-111172800	Weak transcription	Brain Substantia Nigra	brain

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