Variant report

Variant	rs386394745
Chromosome Location	chr21:40168074-40168075
allele	-/TTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40105541..40106641-chr21:40167843..40169143,4	K562	blood:
2	chr21:40159408..40162072-chr21:40163674..40168810,7	MCF-7	breast:
3	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
4	chr21:40165875..40171413-chr21:40174363..40179390,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3348986	chr21:40167994-40168517	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40160600-40169200	Weak transcription	Placenta	Placenta
2	chr21:40163000-40170400	Weak transcription	Colonic Mucosa	Colon
3	chr21:40163000-40171400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr21:40163400-40175400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:40164400-40171200	Enhancers	Duodenum Mucosa	Duodenum
6	chr21:40165000-40176600	Enhancers	Fetal Intestine Large	intestine
7	chr21:40165600-40171000	Enhancers	HepG2	liver
8	chr21:40165800-40168400	Enhancers	A549	lung
9	chr21:40165800-40169200	Enhancers	Hela-S3	cervix
10	chr21:40166200-40170800	Weak transcription	Small Intestine	intestine
11	chr21:40166400-40175400	Enhancers	Fetal Intestine Small	intestine
12	chr21:40166400-40176000	Weak transcription	Pancreas	Pancrea
13	chr21:40166600-40177000	Weak transcription	Gastric	stomach
14	chr21:40166800-40171600	Enhancers	NHEK	skin
15	chr21:40167000-40171200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:40167000-40174600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:40167000-40176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:40167200-40168200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:40167200-40168400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr21:40167200-40171600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr21:40167400-40168400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:40167600-40168600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:40167600-40171000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:40167600-40175400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:40167800-40168400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:40167800-40168800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr21:40167800-40168800	Weak transcription	Stomach Mucosa	stomach
28	chr21:40167800-40169200	Weak transcription	Esophagus	oesophagus
29	chr21:40168000-40168400	Weak transcription	HMEC	breast
30	chr21:40168000-40168400	Weak transcription	K562	blood
31	chr21:40168000-40169400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr21:40168000-40169800	Enhancers	Fetal Muscle Trunk	muscle

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