Variant report

Variant	rs61982060
Chromosome Location	chr14:70169059-70169060
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70078304..70080361-chr14:70167747..70170789,3	K562	blood:
2	chr14:70075993..70078165-chr14:70168395..70170224,2	K562	blood:
3	chr14:70075993..70078093-chr14:70168395..70170520,2	K562	blood:
4	chr14:70082470..70084833-chr14:70167168..70169181,2	K562	blood:
5	chr14:70131947..70135119-chr14:70167812..70170384,3	K562	blood:
6	chr14:70168239..70170378-chr14:70233531..70235143,2	K562	blood:
7	chr14:70078972..70081003-chr14:70168060..70169859,2	MCF-7	breast:
8	chr14:70162413..70165840-chr14:70166006..70170268,6	K562	blood:
9	chr14:70162821..70165355-chr14:70166037..70169969,5	K562	blood:
10	chr14:70054122..70056435-chr14:70168432..70170172,2	K562	blood:
11	chr14:70167525..70169374-chr14:70183810..70186763,2	K562	blood:
12	chr14:70169010..70170880-chr14:70173572..70175615,2	MCF-7	breast:
13	chr14:70167441..70169384-chr14:70170889..70173121,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11620826	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622092	0.80[EUR][1000 genomes]
rs11623812	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11627867	1.00[EUR][1000 genomes]
rs11629212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12587433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1275747	0.87[ASN][1000 genomes]
rs1275748	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1275749	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17107177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1957365	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2275124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784143	1.00[EUR][1000 genomes]
rs3784144	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3784149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825736	1.00[EUR][1000 genomes]
rs4902742	0.86[EUR][1000 genomes]
rs57016627	0.82[EUR][1000 genomes]
rs61980727	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61980737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61982061	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61982064	0.80[EUR][1000 genomes]
rs61982065	0.80[EUR][1000 genomes]
rs8010776	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8020026	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	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:118 , 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	chr14:70161200-70176200	Weak transcription	NHDF-Ad	bronchial
6	chr14:70161600-70179200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:70162800-70178000	Weak transcription	HSMM	muscle
8	chr14:70163000-70170000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:70163000-70170000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:70163000-70170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:70163000-70170200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:70163000-70175600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:70163000-70177800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:70163200-70175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:70163400-70170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
18	chr14:70163600-70170400	Weak transcription	HSMMtube	muscle
19	chr14:70163600-70170400	Weak transcription	NH-A	brain
20	chr14:70163600-70176000	Weak transcription	NHEK	skin
21	chr14:70163800-70171000	Weak transcription	Osteobl	bone
22	chr14:70164000-70169200	Weak transcription	Colonic Mucosa	Colon
23	chr14:70164000-70169200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:70164000-70170200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:70164000-70170400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:70164000-70178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:70164200-70169200	Weak transcription	Esophagus	oesophagus
28	chr14:70164200-70170000	Weak transcription	NHLF	lung
29	chr14:70164200-70170600	Enhancers	Primary B cells from peripheral blood	blood
30	chr14:70164600-70169200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:70164600-70169800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:70164600-70170000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:70164600-70170200	Weak transcription	Fetal Intestine Large	intestine
34	chr14:70164600-70174000	Weak transcription	HMEC	breast
35	chr14:70164800-70169200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:70165600-70170200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:70166200-70169800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:70166600-70169600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr14:70166600-70170000	Enhancers	Fetal Muscle Leg	muscle
40	chr14:70166600-70175400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:70166600-70179000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:70166800-70169200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:70166800-70170000	Enhancers	Brain Hippocampus Middle	brain
44	chr14:70166800-70170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:70167000-70170000	Enhancers	Primary B cells from cord blood	blood
46	chr14:70167000-70170000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr14:70167000-70170000	Weak transcription	Gastric	stomach
48	chr14:70167000-70170600	Enhancers	Brain Anterior Caudate	brain
49	chr14:70167200-70170200	Enhancers	Fetal Lung	lung
50	chr14:70167200-70171000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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