Variant report

Variant	rs56808476
Chromosome Location	chr14:70168109-70168110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70078304..70080361-chr14:70167747..70170789,3	K562	blood:
2	chr14:70082470..70084833-chr14:70167168..70169181,2	K562	blood:
3	chr14:70131947..70135119-chr14:70167812..70170384,3	K562	blood:
4	chr14:70078972..70081003-chr14:70168060..70169859,2	MCF-7	breast:
5	chr14:70162413..70165840-chr14:70166006..70170268,6	K562	blood:
6	chr14:70162821..70165355-chr14:70166037..70169969,5	K562	blood:
7	chr14:70158843..70161207-chr14:70166333..70168210,2	MCF-7	breast:
8	chr14:70161404..70164443-chr14:70166782..70169020,3	MCF-7	breast:
9	chr14:70167048..70168975-chr14:70173982..70176158,3	K562	blood:
10	chr14:70167525..70169374-chr14:70183810..70186763,2	K562	blood:
11	chr14:70167441..70169384-chr14:70170889..70173121,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11844446	1.00[EUR][1000 genomes]
rs11844465	1.00[EUR][1000 genomes]
rs11845465	1.00[EUR][1000 genomes]
rs11845528	1.00[EUR][1000 genomes]
rs11845658	1.00[EUR][1000 genomes]
rs11847510	1.00[EUR][1000 genomes]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	1.00[EUR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs55988102	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859443	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56956469	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	1.00[EUR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58503693	1.00[EUR][1000 genomes]
rs58583730	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61734222	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	1.00[EUR][1000 genomes]
rs73286939	1.00[EUR][1000 genomes]
rs73286943	1.00[EUR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060220	1.00[EUR][1000 genomes]
rs74060234	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060251	1.00[EUR][1000 genomes]
rs74060252	1.00[EUR][1000 genomes]
rs74060256	1.00[EUR][1000 genomes]
rs74060258	1.00[EUR][1000 genomes]
rs74060261	1.00[EUR][1000 genomes]
rs74060263	1.00[EUR][1000 genomes]
rs74060267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060281	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060283	1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74060575	1.00[EUR][1000 genomes]
rs74061831	1.00[AMR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009986	1.00[EUR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70158400-70170000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:70159400-70170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:70160000-70177600	Weak transcription	Fetal Brain Female	brain
4	chr14:70160200-70170000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:70160400-70169000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:70161000-70169000	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:70161200-70176200	Weak transcription	NHDF-Ad	bronchial
8	chr14:70161600-70179200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:70162800-70178000	Weak transcription	HSMM	muscle
10	chr14:70163000-70170000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:70163000-70170000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:70163000-70170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:70163000-70170200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:70163000-70175600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:70163000-70177800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:70163200-70175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:70163400-70170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
20	chr14:70163600-70168400	Weak transcription	Thymus	Thymus
21	chr14:70163600-70170400	Weak transcription	HSMMtube	muscle
22	chr14:70163600-70170400	Weak transcription	NH-A	brain
23	chr14:70163600-70176000	Weak transcription	NHEK	skin
24	chr14:70163800-70168400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:70163800-70171000	Weak transcription	Osteobl	bone
26	chr14:70164000-70168200	Weak transcription	HUVEC	blood vessel
27	chr14:70164000-70168400	Enhancers	GM12878-XiMat	blood
28	chr14:70164000-70169200	Weak transcription	Colonic Mucosa	Colon
29	chr14:70164000-70169200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:70164000-70170200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:70164000-70170400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:70164000-70178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:70164200-70168200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr14:70164200-70168400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:70164200-70168600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr14:70164200-70169000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:70164200-70169200	Weak transcription	Esophagus	oesophagus
38	chr14:70164200-70170000	Weak transcription	NHLF	lung
39	chr14:70164200-70170600	Enhancers	Primary B cells from peripheral blood	blood
40	chr14:70164600-70168200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:70164600-70168600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:70164600-70168600	Weak transcription	Psoas Muscle	Psoas
43	chr14:70164600-70169200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:70164600-70169800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:70164600-70170000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:70164600-70170200	Weak transcription	Fetal Intestine Large	intestine
47	chr14:70164600-70174000	Weak transcription	HMEC	breast
48	chr14:70164800-70169200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:70165000-70168600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr14:70165000-70169000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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