Variant report

Variant	rs1998986
Chromosome Location	chr13:40062000-40062001
allele	A/C
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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12583864	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1998987	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566439	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566440	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566441	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9566442	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9566443	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566444	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576816	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576817	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576818	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576819	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576820	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576822	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9594333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

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	chr13:40057800-40063200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:40058400-40068200	Weak transcription	Right Atrium	heart
6	chr13:40058600-40063400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:40058600-40070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:40058800-40063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:40059000-40064000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:40059000-40064200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:40059000-40064600	Weak transcription	Ovary	ovary
12	chr13:40059000-40073000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:40059600-40062000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:40060000-40064600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:40060200-40062000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:40060800-40063200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:40060800-40063200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:40060800-40068200	Weak transcription	Aorta	Aorta
19	chr13:40060800-40071800	Weak transcription	HSMM	muscle
20	chr13:40061000-40062600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr13:40061200-40063000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:40061400-40062400	Enhancers	Fetal Muscle Leg	muscle
23	chr13:40061400-40062600	Enhancers	Left Ventricle	heart
24	chr13:40061400-40063800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:40061600-40062600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr13:40061600-40064200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:40061600-40081000	Weak transcription	Osteobl	bone
28	chr13:40061800-40062600	Enhancers	Psoas Muscle	Psoas
29	chr13:40061800-40063200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr13:40061800-40064200	Weak transcription	Fetal Heart	heart
31	chr13:40062000-40062400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr13:40062000-40063200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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