Variant report

Variant	rs547890005
Chromosome Location	chr13:111379127-111379128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111378082..111379664-chr13:111380125..111381869,2	MCF-7	breast:
2	chr13:111376558..111379495-chr13:111384909..111386975,2	K562	blood:
3	chr13:111377814..111380233-chr13:111525539..111528111,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
5	esv3440925	chr13:111378000-111406978	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv1041716	chr13:111378180-111516489	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541926	chr13:111378180-111516489	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111369200-111381400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:111370200-111383400	Weak transcription	Right Atrium	heart
3	chr13:111370400-111379400	Weak transcription	Fetal Kidney	kidney
4	chr13:111370800-111379200	Weak transcription	Psoas Muscle	Psoas
5	chr13:111370800-111380200	Weak transcription	HSMM	muscle
6	chr13:111370800-111380800	Weak transcription	Hela-S3	cervix
7	chr13:111372200-111379600	Weak transcription	NHLF	lung
8	chr13:111372200-111380000	Weak transcription	Gastric	stomach
9	chr13:111372200-111381600	Weak transcription	A549	lung
10	chr13:111372200-111383400	Weak transcription	Esophagus	oesophagus
11	chr13:111372200-111383600	Weak transcription	Aorta	Aorta
12	chr13:111372200-111384200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:111372400-111379200	Weak transcription	Lung	lung
14	chr13:111372400-111379200	Weak transcription	Pancreas	Pancrea
15	chr13:111372400-111379200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:111372400-111379600	Weak transcription	Brain Substantia Nigra	brain
17	chr13:111372400-111380000	Weak transcription	Colonic Mucosa	Colon
18	chr13:111372400-111381400	Weak transcription	Right Ventricle	heart
19	chr13:111372400-111381600	Weak transcription	Fetal Intestine Small	intestine
20	chr13:111372400-111382000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:111372400-111382400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:111372400-111383200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:111372400-111383400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr13:111372400-111384200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:111372600-111379800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:111372600-111380000	Weak transcription	Fetal Muscle Leg	muscle
27	chr13:111372600-111381200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:111373000-111379800	Weak transcription	Liver	Liver
29	chr13:111373400-111379800	Weak transcription	Brain Germinal Matrix	brain
30	chr13:111373600-111379200	Weak transcription	Fetal Thymus	thymus
31	chr13:111373600-111379800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:111373600-111380000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr13:111373600-111380400	Weak transcription	Primary B cells from cord blood	blood
34	chr13:111373600-111380400	Weak transcription	Fetal Intestine Large	intestine
35	chr13:111373600-111381000	Weak transcription	Fetal Brain Female	brain
36	chr13:111373600-111382600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:111373600-111383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr13:111373800-111379600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr13:111373800-111379600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr13:111373800-111380400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:111374200-111382600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr13:111374400-111379200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:111374400-111379400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:111374400-111379600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:111374400-111380000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr13:111374400-111381600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:111374400-111381600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr13:111375000-111380400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:111375400-111383400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:111375600-111379800	Weak transcription	Dnd41	blood

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