Variant report

Variant	rs73278399
Chromosome Location	chr14:68961542-68961543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68954869..68956899-chr14:68959917..68962601,2	K562	blood:
2	chr14:68960497..68962145-chr14:68965720..68967395,2	MCF-7	breast:
3	chr14:68960367..68962165-chr14:68962377..68965286,2	MCF-7	breast:
4	chr14:68958814..68961806-chr14:68963005..68965065,2	K562	blood:
5	chr14:68957700..68966900-chr14:68968037..68976020,15	MCF-7	breast:
6	chr14:68957189..68962665-chr14:69258217..69261056,5	MCF-7	breast:
7	chr14:68960140..68963220-chr14:68983834..68986769,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs35538152	1.00[AMR][1000 genomes]
rs4902572	1.00[AMR][1000 genomes]
rs57955495	1.00[AMR][1000 genomes]
rs61166822	1.00[AMR][1000 genomes]
rs73274116	1.00[AMR][1000 genomes]
rs73274136	1.00[AMR][1000 genomes]
rs73274156	1.00[AMR][1000 genomes]
rs73274164	1.00[AMR][1000 genomes]
rs73278401	1.00[AMR][1000 genomes]
rs73280314	1.00[AMR][1000 genomes]
rs73282338	1.00[AMR][1000 genomes]
rs74058874	1.00[AMR][1000 genomes]
rs8022646	1.00[AMR][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68944400-68968200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:68950600-68968200	Weak transcription	Gastric	stomach
3	chr14:68951000-68969400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:68952000-68961800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:68952000-68967600	Weak transcription	Thymus	Thymus
6	chr14:68954000-68961600	Weak transcription	Lung	lung
7	chr14:68955200-68961800	Weak transcription	HSMM	muscle
8	chr14:68955200-68967600	Weak transcription	Placenta	Placenta
9	chr14:68955400-68967600	Weak transcription	Pancreas	Pancrea
10	chr14:68956800-68971800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:68957600-68965600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:68958000-68961800	Weak transcription	Spleen	Spleen
13	chr14:68958200-68962000	Enhancers	Fetal Stomach	stomach
14	chr14:68958600-68967800	Weak transcription	Ovary	ovary
15	chr14:68959400-68963400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:68959800-68961800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:68959800-68963200	Enhancers	Fetal Muscle Leg	muscle
18	chr14:68960000-68961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:68960200-68963600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:68960200-68968200	Weak transcription	Fetal Intestine Small	intestine
21	chr14:68960200-68969600	Weak transcription	Fetal Intestine Large	intestine
22	chr14:68960400-68961600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:68960400-68962200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:68960400-68962400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:68960400-68963400	Enhancers	Fetal Lung	lung
26	chr14:68960400-68969600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:68960400-68971000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:68960400-68971400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:68960400-68971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:68960400-68971800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:68960600-68961800	Enhancers	Primary T cells from cord blood	blood
32	chr14:68960800-68961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:68960800-68961800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:68961000-68961800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:68961000-68961800	Enhancers	Fetal Kidney	kidney
36	chr14:68961000-68962200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:68961000-68962800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:68961000-68963400	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:68961000-68963400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr14:68961000-68963400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:68961000-68963600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr14:68961000-68963800	Enhancers	Fetal Thymus	thymus
43	chr14:68961200-68961800	Enhancers	Fetal Heart	heart
44	chr14:68961200-68961800	Enhancers	GM12878-XiMat	blood
45	chr14:68961200-68962000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:68961200-68962000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:68961200-68962800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:68961200-68962800	Enhancers	NHEK	skin
49	chr14:68961200-68963000	Enhancers	Primary B cells from cord blood	blood
50	chr14:68961200-68963400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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