Variant report

Variant	rs8003964
Chromosome Location	chr14:69411739-69411740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
2	chr14:69402918..69410408-chr14:69410942..69415819,17	MCF-7	breast:
3	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
4	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
5	chr14:69396929..69399873-chr14:69410580..69412434,2	K562	blood:
6	chr14:69410467..69412798-chr14:69554538..69557581,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000258531	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55957667	1.00[ASN][1000 genomes]
rs56038222	1.00[ASN][1000 genomes]
rs7148988	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7152850	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72733540	0.87[AMR][1000 genomes];1.00[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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv456333	chr14:69392445-69415962	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv564965	chr14:69392445-69415962	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:69394200-69422200	Weak transcription	Dnd41	blood
3	chr14:69397800-69415200	Enhancers	Esophagus	oesophagus
4	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr14:69400200-69416400	Enhancers	Pancreas	Pancrea
6	chr14:69400400-69417000	Enhancers	Fetal Muscle Leg	muscle
7	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
8	chr14:69401800-69412400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr14:69402200-69425200	Enhancers	Right Atrium	heart
11	chr14:69402400-69414400	Enhancers	Adipose Nuclei	Adipose
12	chr14:69402400-69416400	Enhancers	Left Ventricle	heart
13	chr14:69402400-69423600	Enhancers	Fetal Heart	heart
14	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:69402600-69416600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:69403600-69420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:69404200-69412600	Enhancers	Fetal Muscle Trunk	muscle
18	chr14:69404200-69417000	Enhancers	Right Ventricle	heart
19	chr14:69404400-69411800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:69404600-69412200	Weak transcription	K562	blood
21	chr14:69405000-69415400	Weak transcription	Psoas Muscle	Psoas
22	chr14:69405200-69412400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:69405400-69412600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:69405400-69413600	Enhancers	Liver	Liver
25	chr14:69405800-69412000	Weak transcription	Primary B cells from cord blood	blood
26	chr14:69405800-69412000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr14:69406000-69413000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:69406400-69412200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:69406400-69417800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:69406800-69412200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr14:69406800-69414400	Genic enhancers	Fetal Intestine Small	intestine
32	chr14:69407000-69414600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:69407000-69414600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr14:69407000-69419600	Weak transcription	Fetal Brain Male	brain
35	chr14:69407200-69414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:69407400-69416400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:69408000-69413800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:69408400-69411800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr14:69408400-69411800	Enhancers	Spleen	Spleen
40	chr14:69408400-69416400	Genic enhancers	Fetal Stomach	stomach
41	chr14:69408400-69416600	Enhancers	Brain Anterior Caudate	brain
42	chr14:69408400-69416600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr14:69408600-69412400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:69408600-69414600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:69409000-69411800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr14:69409000-69414000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:69409200-69411800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:69409200-69412200	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr14:69409200-69414200	Enhancers	Colonic Mucosa	Colon
50	chr14:69409200-69414200	Genic enhancers	NH-A	brain

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