Variant report

Variant	rs73551516
Chromosome Location	chr13:80052029-80052030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr13:80052025-80052420	SK-N-SH_RA	brain:	n/a	n/a
2	RAD21	chr13:80052002-80052547	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:80051040..80052592-chr13:80053663..80055858,2	K562	blood:
2	chr13:80051006..80052997-chr13:80053251..80055689,2	K562	blood:
3	chr13:80044193..80046856-chr13:80049312..80052188,3	K562	blood:

Variant related genes	Relation type
NDFIP2	TF binding region
ENSG00000232132	Chromatin interaction
ENSG00000102471	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11838700	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838897	1.00[EUR][1000 genomes]
rs11839689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841482	1.00[EUR][1000 genomes]
rs11841756	1.00[ASN][1000 genomes]
rs11841968	1.00[EUR][1000 genomes]
rs11843203	1.00[EUR][1000 genomes]
rs11843917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843939	1.00[EUR][1000 genomes]
rs1335372	1.00[ASN][1000 genomes]
rs17071492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071589	1.00[ASN][1000 genomes]
rs17071629	1.00[ASN][1000 genomes]
rs17431002	1.00[ASN][1000 genomes]
rs35724140	1.00[EUR][1000 genomes]
rs4884132	1.00[ASN][1000 genomes]
rs4885635	1.00[ASN][1000 genomes]
rs4885639	1.00[ASN][1000 genomes]
rs4885641	1.00[ASN][1000 genomes]
rs55820419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56863569	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58069884	1.00[ASN][1000 genomes]
rs58233612	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58264675	1.00[ASN][1000 genomes]
rs59251364	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59319360	1.00[ASN][1000 genomes]
rs60016606	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67435118	1.00[ASN][1000 genomes]
rs7139902	1.00[ASN][1000 genomes]
rs73235960	1.00[ASN][1000 genomes]
rs7325970	1.00[ASN][1000 genomes]
rs7337908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548905	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548931	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548936	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548962	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548974	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73551514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74098308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74098315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74098399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983312	1.00[ASN][1000 genomes]
rs7985220	1.00[ASN][1000 genomes]
rs7985239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985291	1.00[ASN][1000 genomes]
rs7991663	1.00[ASN][1000 genomes]
rs7992646	1.00[ASN][1000 genomes]
rs7994370	1.00[EUR][1000 genomes]
rs7995350	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995717	1.00[ASN][1000 genomes]
rs7996153	1.00[EUR][1000 genomes]
rs8002638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530936	1.00[ASN][1000 genomes]
rs9545129	1.00[ASN][1000 genomes]
rs9545132	1.00[ASN][1000 genomes]
rs9545143	1.00[ASN][1000 genomes]

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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80048400-80053600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr13:80050400-80054800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr13:80051600-80052400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:80051600-80052600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:80051800-80052200	Flanking Active TSS	Fetal Heart	heart
6	chr13:80051800-80052400	Enhancers	HMEC	breast
7	chr13:80051800-80052600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:80051800-80052600	Enhancers	NHEK	skin
9	chr13:80051800-80052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr13:80052000-80052400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:80052000-80052400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:80052000-80052400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:80052000-80052600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr13:80052000-80053000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:80052000-80053200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr13:80052000-80053200	Enhancers	Skeletal Muscle Female	skeletal muscle

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