Variant report

Variant	rs7146578
Chromosome Location	chr14:70167639-70167640
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70082470..70084833-chr14:70167168..70169181,2	K562	blood:
2	chr14:70162413..70165840-chr14:70166006..70170268,6	K562	blood:
3	chr14:70162821..70165355-chr14:70166037..70169969,5	K562	blood:
4	chr14:70158843..70161207-chr14:70166333..70168210,2	MCF-7	breast:
5	chr14:70161404..70164443-chr14:70166782..70169020,3	MCF-7	breast:
6	chr14:70167048..70168975-chr14:70173982..70176158,3	K562	blood:
7	chr14:70167525..70169374-chr14:70183810..70186763,2	K562	blood:
8	chr14:70167441..70169384-chr14:70170889..70173121,2	K562	blood:

No data

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1109652	0.85[ASN][1000 genomes]
rs12435686	0.89[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs12589913	0.89[CHB][hapmap];0.94[CHD][hapmap]
rs1275824	0.84[JPT][hapmap];0.80[EUR][1000 genomes]
rs1275828	0.83[CHB][hapmap]
rs12895185	0.89[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2152373	0.89[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2224541	0.89[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs2332094	0.84[GIH][hapmap]
rs4899308	0.89[CHB][hapmap];0.94[CHD][hapmap]
rs4902747	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573897	0.90[ASN][1000 genomes]
rs6573902	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8006991	0.84[GIH][hapmap]
rs8008410	0.83[ASN][1000 genomes]
rs875424	0.89[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs943275	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs945311	1.00[CHB][hapmap];0.91[JPT][hapmap];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: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	chr14:70162200-70168000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:70162800-70178000	Weak transcription	HSMM	muscle
11	chr14:70163000-70168000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:70163000-70168000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:70163000-70168000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:70163000-70170000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:70163000-70170000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:70163000-70170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:70163000-70170200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:70163000-70175600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:70163000-70177800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:70163200-70175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:70163400-70168000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:70163400-70170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
25	chr14:70163600-70168000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:70163600-70168000	Weak transcription	Fetal Stomach	stomach
27	chr14:70163600-70168400	Weak transcription	Thymus	Thymus
28	chr14:70163600-70170400	Weak transcription	HSMMtube	muscle
29	chr14:70163600-70170400	Weak transcription	NH-A	brain
30	chr14:70163600-70176000	Weak transcription	NHEK	skin
31	chr14:70163800-70167800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:70163800-70168400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:70163800-70171000	Weak transcription	Osteobl	bone
34	chr14:70164000-70167800	Weak transcription	Brain Substantia Nigra	brain
35	chr14:70164000-70168000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:70164000-70168000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:70164000-70168000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:70164000-70168200	Weak transcription	HUVEC	blood vessel
39	chr14:70164000-70168400	Enhancers	GM12878-XiMat	blood
40	chr14:70164000-70169200	Weak transcription	Colonic Mucosa	Colon
41	chr14:70164000-70169200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:70164000-70170200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:70164000-70170400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:70164000-70178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:70164200-70168000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:70164200-70168000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:70164200-70168000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:70164200-70168000	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:70164200-70168000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:70164200-70168200	Enhancers	Primary neutrophils fromperipheralblood	blood

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