Variant report

Variant	rs386378886
Chromosome Location	chr13:40063696-40063697
allele	-/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:40061815..40064290-chr13:40065605..40067303,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv818957	chr13:40063104-40067857	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40043600-40068200	Weak transcription	Lung	lung
2	chr13:40051400-40064400	Weak transcription	HSMMtube	muscle
3	chr13:40057000-40070400	Weak transcription	Right Ventricle	heart
4	chr13:40058400-40068200	Weak transcription	Right Atrium	heart
5	chr13:40058600-40070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:40059000-40064000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:40059000-40064200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr13:40059000-40064600	Weak transcription	Ovary	ovary
9	chr13:40059000-40073000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:40060000-40064600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:40060800-40068200	Weak transcription	Aorta	Aorta
12	chr13:40060800-40071800	Weak transcription	HSMM	muscle
13	chr13:40061400-40063800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:40061600-40064200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:40061600-40081000	Weak transcription	Osteobl	bone
16	chr13:40061800-40064200	Weak transcription	Fetal Heart	heart
17	chr13:40062400-40068400	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:40062600-40063800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:40062600-40064000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:40062600-40065600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:40062600-40068200	Weak transcription	Left Ventricle	heart
22	chr13:40062600-40073000	Weak transcription	Psoas Muscle	Psoas
23	chr13:40063000-40065600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:40063200-40064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:40063200-40064000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:40063200-40064200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:40063400-40064200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:40063400-40064400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr13:40063400-40066200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:40063600-40064000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:40063600-40064400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr13:40063600-40064600	Weak transcription	H9 Cell Line	embryonic stem cell

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