Variant report

Variant	rs7401191
Chromosome Location	chr14:64325281-64325282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64318382..64321162-chr14:64323828..64326705,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12588807	1.00[ASN][1000 genomes]
rs12588955	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12589453	0.83[ASN][1000 genomes]
rs12878037	1.00[ASN][1000 genomes]
rs12878348	1.00[ASN][1000 genomes]
rs12879374	0.86[ASN][1000 genomes]
rs12881942	1.00[ASN][1000 genomes]
rs12882429	1.00[ASN][1000 genomes]
rs12894963	1.00[ASN][1000 genomes]
rs34328391	0.86[ASN][1000 genomes]
rs34451919	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34516595	0.80[AFR][1000 genomes]
rs34556545	0.93[ASN][1000 genomes]
rs34561759	1.00[ASN][1000 genomes]
rs35009554	1.00[ASN][1000 genomes]
rs35033077	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35168922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35302448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35984502	0.86[ASN][1000 genomes]
rs4459477	1.00[ASN][1000 genomes]
rs4902250	1.00[ASN][1000 genomes]
rs66684280	1.00[ASN][1000 genomes]
rs67289344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71416319	1.00[ASN][1000 genomes]
rs7144308	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8008527	0.83[AFR][1000 genomes];0.88[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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321200-64327000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:64321200-64333800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:64321200-64334600	Weak transcription	Pancreas	Pancrea
4	chr14:64321200-64340600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:64321400-64330600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:64321400-64331200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
8	chr14:64321600-64326200	Weak transcription	HSMMtube	muscle
9	chr14:64321600-64326800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:64322200-64327600	Weak transcription	Psoas Muscle	Psoas
11	chr14:64322400-64326600	Weak transcription	Gastric	stomach
12	chr14:64322400-64327800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:64322400-64334400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:64322600-64326200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr14:64322600-64327000	Weak transcription	Fetal Intestine Large	intestine
16	chr14:64322600-64331200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:64322600-64331200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:64322800-64325800	Weak transcription	Placenta	Placenta
19	chr14:64322800-64326800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:64322800-64329000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr14:64322800-64330000	Weak transcription	Fetal Kidney	kidney
22	chr14:64322800-64330000	Weak transcription	HepG2	liver
23	chr14:64322800-64330600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:64322800-64330800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:64322800-64340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:64322800-64340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:64323000-64326800	Weak transcription	Fetal Brain Female	brain
28	chr14:64323000-64326800	Weak transcription	Fetal Heart	heart
29	chr14:64323000-64327000	Weak transcription	Fetal Lung	lung
30	chr14:64323000-64327200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:64323000-64329000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:64323000-64330000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:64323000-64330200	Weak transcription	Primary T cells from cord blood	blood
34	chr14:64323000-64330400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:64323000-64332800	Weak transcription	Fetal Intestine Small	intestine
36	chr14:64323000-64333000	Weak transcription	Ovary	ovary
37	chr14:64323200-64325800	Weak transcription	Right Ventricle	heart
38	chr14:64323200-64326400	Weak transcription	Esophagus	oesophagus
39	chr14:64323200-64331200	Weak transcription	Right Atrium	heart
40	chr14:64323200-64334400	Weak transcription	Aorta	Aorta
41	chr14:64323200-64340200	Weak transcription	Left Ventricle	heart
42	chr14:64323200-64340400	Weak transcription	Spleen	Spleen
43	chr14:64323400-64326800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:64323600-64326400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:64323800-64326400	Weak transcription	Lung	lung
46	chr14:64324000-64330200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:64324200-64329800	Weak transcription	Brain Germinal Matrix	brain
48	chr14:64324200-64330800	Weak transcription	Hela-S3	cervix
49	chr14:64324400-64327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:64324400-64327000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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