Variant report

Variant	rs1526323
Chromosome Location	chr7:129510308-129510309
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129509516..129511259-chr7:129592025..129593996,2	MCF-7	breast:
2	chr7:129509206..129511650-chr7:129515588..129517952,2	K562	blood:
3	chr7:129249913..129252186-chr7:129509036..129510980,2	K562	blood:

Variant related genes	Relation type
ENSG00000186591	Chromatin interaction
ENSG00000244036	Chromatin interaction
ENSG00000106459	Chromatin interaction
ENSG00000273329	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10216153	0.92[AFR][1000 genomes]
rs10216157	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240142	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10242002	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246707	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249037	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253233	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261367	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273782	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1046691	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500121	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486831	0.93[AFR][1000 genomes]
rs17162050	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162123	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162136	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162295	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17639187	1.00[ASN][1000 genomes]
rs2037720	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28604351	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55682483	0.93[AFR][1000 genomes]
rs57314877	0.80[AFR][1000 genomes]
rs58857902	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62489374	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62489375	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491492	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491503	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491504	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491518	0.85[AFR][1000 genomes]
rs62491537	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467267	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962745	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6979056	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161641	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783328	0.81[AFR][1000 genomes]
rs7789191	0.80[AFR][1000 genomes]
rs7789336	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801603	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803795	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656386	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv366414	chr7:129504412-129512872	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 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	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
2	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
3	chr7:129493800-129510400	Weak transcription	Brain Germinal Matrix	brain
4	chr7:129494400-129518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:129495400-129510400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:129495600-129517000	Weak transcription	Fetal Lung	lung
7	chr7:129496400-129520400	Weak transcription	Fetal Brain Female	brain
8	chr7:129497000-129513400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:129497000-129515800	Weak transcription	Placenta	Placenta
10	chr7:129497000-129536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:129497200-129511200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:129499200-129517200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:129501600-129510600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr7:129501600-129511200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:129503000-129513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:129503000-129517200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:129503200-129515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:129503200-129515800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:129503200-129517000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:129503200-129517200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:129503200-129519800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:129503200-129529000	Weak transcription	Gastric	stomach
23	chr7:129503400-129514400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:129503400-129515800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:129503400-129517200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:129503400-129538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:129503600-129515600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:129503600-129515800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:129503800-129515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:129504000-129517800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:129504000-129518800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:129504200-129515600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:129504200-129515600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:129504200-129515600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:129504200-129517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:129504200-129519200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:129504600-129518000	Weak transcription	Lung	lung
38	chr7:129505600-129510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:129505600-129511000	Weak transcription	HMEC	breast
40	chr7:129505600-129529600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:129506000-129510600	Weak transcription	Ovary	ovary
43	chr7:129506000-129512000	Weak transcription	HSMM	muscle
44	chr7:129506000-129515000	Weak transcription	NHLF	lung
45	chr7:129506000-129515600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:129506000-129518000	Weak transcription	Pancreas	Pancrea
47	chr7:129506000-129518000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:129506000-129542800	Weak transcription	Small Intestine	intestine
49	chr7:129506400-129514600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:129506400-129516600	Weak transcription	Brain Inferior Temporal Lobe	brain

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