Variant report

Variant	rs61549948
Chromosome Location	chr14:39740806-39740807
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr14:39740679-39741215	HEK293	kidney:	n/a	n/a
2	SETDB1	chr14:39740753-39741241	U2OS	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39736982..39739247-chr14:39739513..39742286,3	K562	blood:
2	chr14:39639538..39641336-chr14:39738634..39740819,2	MCF-7	breast:
3	chr14:39737724..39741488-chr14:39742832..39745249,3	K562	blood:
4	chr14:39733456..39736427-chr14:39738159..39742075,4	K562	blood:
5	chr14:39733186..39738068-chr14:39738751..39742738,6	MCF-7	breast:

No data

Variant related genes	Relation type
CTAGE5	TF binding region
ENSG00000258940	TF binding region
ENSG00000258940	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000258941	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs17109188	1.00[AMR][1000 genomes]
rs17109213	1.00[AMR][1000 genomes]
rs17109227	1.00[AMR][1000 genomes]
rs17109249	1.00[AMR][1000 genomes]
rs17109258	1.00[AMR][1000 genomes]
rs34909359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56859252	1.00[AMR][1000 genomes]
rs57012657	1.00[AMR][1000 genomes]
rs57430547	1.00[AMR][1000 genomes]
rs57566573	1.00[AMR][1000 genomes]
rs58371839	1.00[AMR][1000 genomes]
rs59371684	1.00[AMR][1000 genomes]
rs59546917	1.00[AMR][1000 genomes]
rs59597680	1.00[AMR][1000 genomes]
rs59919221	1.00[AMR][1000 genomes]
rs59953702	1.00[AMR][1000 genomes]
rs60367463	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60601774	1.00[AMR][1000 genomes]
rs60921042	1.00[AMR][1000 genomes]
rs61176483	1.00[AMR][1000 genomes]
rs61668966	1.00[AMR][1000 genomes]
rs7148519	1.00[AMR][1000 genomes]
rs73275040	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275059	1.00[AMR][1000 genomes]
rs73275062	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275075	1.00[AMR][1000 genomes]
rs73275076	1.00[AMR][1000 genomes]
rs73277428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277440	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277466	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277467	1.00[AMR][1000 genomes]
rs73277471	1.00[AMR][1000 genomes]
rs73277473	1.00[AMR][1000 genomes]
rs73277474	1.00[AMR][1000 genomes]
rs73277475	1.00[AMR][1000 genomes]
rs73277478	1.00[AMR][1000 genomes]
rs73277496	1.00[AMR][1000 genomes]
rs73277499	1.00[AMR][1000 genomes]
rs73277501	1.00[AMR][1000 genomes]
rs73279309	1.00[AMR][1000 genomes]
rs73279392	1.00[AMR][1000 genomes]
rs73283432	1.00[AMR][1000 genomes]
rs73283442	1.00[AMR][1000 genomes]
rs73283453	1.00[AMR][1000 genomes]
rs73285541	1.00[AMR][1000 genomes]
rs73285564	1.00[AMR][1000 genomes]
rs73285569	1.00[AMR][1000 genomes]
rs73285591	1.00[AMR][1000 genomes]
rs73285598	1.00[AMR][1000 genomes]
rs73285599	1.00[AMR][1000 genomes]
rs73287518	1.00[AMR][1000 genomes]
rs73287521	1.00[AMR][1000 genomes]
rs73287541	1.00[AMR][1000 genomes]
rs73287554	1.00[AMR][1000 genomes]
rs73287555	1.00[AMR][1000 genomes]
rs73287560	1.00[AMR][1000 genomes]
rs73287572	1.00[AMR][1000 genomes]
rs73287574	1.00[AMR][1000 genomes]
rs73287602	1.00[AMR][1000 genomes]
rs73287662	1.00[AMR][1000 genomes]
rs73291562	1.00[AMR][1000 genomes]
rs73291565	1.00[AMR][1000 genomes]
rs73291581	1.00[AMR][1000 genomes]
rs73291596	1.00[AMR][1000 genomes]
rs73291598	1.00[AMR][1000 genomes]
rs73293309	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39737000-39741000	Weak transcription	Spleen	Spleen
2	chr14:39737000-39751800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:39737200-39741600	Weak transcription	Esophagus	oesophagus
4	chr14:39737800-39748800	Weak transcription	Right Ventricle	heart
5	chr14:39737800-39750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:39737800-39763800	Weak transcription	Gastric	stomach
7	chr14:39738000-39742400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr14:39738000-39742600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr14:39738000-39744400	Weak transcription	Right Atrium	heart
10	chr14:39738000-39748800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:39738000-39750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:39738000-39752000	Weak transcription	Stomach Mucosa	stomach
13	chr14:39738000-39763800	Weak transcription	HSMM	muscle
14	chr14:39738200-39741000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr14:39738200-39741000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:39738200-39741000	Weak transcription	Fetal Stomach	stomach
17	chr14:39738200-39742000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:39738200-39745000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:39738200-39747000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:39738200-39748800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:39738200-39748800	Weak transcription	Fetal Kidney	kidney
22	chr14:39738200-39748800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:39738200-39748800	Weak transcription	Osteobl	bone
24	chr14:39738200-39751800	Weak transcription	Colonic Mucosa	Colon
25	chr14:39738200-39751800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:39738200-39759200	Weak transcription	NH-A	brain
27	chr14:39738200-39763800	Weak transcription	Brain Angular Gyrus	brain
28	chr14:39738200-39763800	Weak transcription	HSMMtube	muscle
29	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:39738600-39763800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:39738800-39747800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:39738800-39748800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:39738800-39748800	Weak transcription	Adipose Nuclei	Adipose
35	chr14:39738800-39748800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:39738800-39748800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:39738800-39764800	Weak transcription	NHDF-Ad	bronchial
38	chr14:39739000-39741000	Weak transcription	Thymus	Thymus
39	chr14:39739000-39741200	Weak transcription	Psoas Muscle	Psoas
40	chr14:39739000-39746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:39739000-39747200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:39739000-39748800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:39739000-39751800	Weak transcription	Brain Anterior Caudate	brain
44	chr14:39739200-39743800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:39739200-39747600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr14:39739200-39748800	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:39739200-39748800	Weak transcription	HUVEC	blood vessel
48	chr14:39739200-39764000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:39739400-39741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr14:39739400-39741800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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