Variant report

Variant	rs62491504
Chromosome Location	chr7:129519555-129519556
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	chr7:129516752..129519890-chr7:129589856..129592856,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186591	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10216157	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240142	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10242002	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246707	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249037	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253233	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261367	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273782	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1046691	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500121	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526323	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162050	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162123	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162136	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162295	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17639187	1.00[ASN][1000 genomes]
rs2037720	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28604351	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58857902	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62489374	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62489375	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491492	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491503	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491537	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467267	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962745	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6979056	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161641	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789336	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801603	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803795	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656386	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:124 , 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	chr7:129496400-129520400	Weak transcription	Fetal Brain Female	brain
4	chr7:129497000-129536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:129503200-129519800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:129503200-129529000	Weak transcription	Gastric	stomach
7	chr7:129503400-129538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:129505600-129529600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:129506000-129542800	Weak transcription	Small Intestine	intestine
11	chr7:129506800-129519600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:129506800-129520600	Weak transcription	Fetal Kidney	kidney
13	chr7:129509600-129541000	Weak transcription	Spleen	Spleen
14	chr7:129510200-129524600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:129510600-129541000	Weak transcription	Esophagus	oesophagus
16	chr7:129511200-129529000	Weak transcription	Brain Germinal Matrix	brain
17	chr7:129511200-129529600	Weak transcription	Brain Substantia Nigra	brain
18	chr7:129512000-129520000	Weak transcription	Dnd41	blood
19	chr7:129512000-129524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:129512000-129529600	Weak transcription	Fetal Stomach	stomach
21	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:129513800-129529600	Weak transcription	Fetal Intestine Small	intestine
23	chr7:129515200-129520000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:129515600-129519600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:129515600-129519800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:129515600-129520000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:129515600-129520800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:129515600-129521000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:129515600-129521000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:129515600-129521000	Strong transcription	GM12878-XiMat	blood
31	chr7:129515800-129520800	Strong transcription	Placenta	Placenta
32	chr7:129515800-129521800	Strong transcription	Primary B cells from cord blood	blood
33	chr7:129516000-129529400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:129516200-129520200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:129516200-129521600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:129516200-129521800	Weak transcription	NHDF-Ad	bronchial
37	chr7:129516200-129525400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:129516200-129526000	Weak transcription	NHLF	lung
39	chr7:129516200-129526200	Weak transcription	Ovary	ovary
40	chr7:129516200-129529000	Weak transcription	Aorta	Aorta
41	chr7:129516200-129529000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:129516200-129542800	Weak transcription	HSMMtube	muscle
43	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
44	chr7:129516400-129528000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:129516600-129528800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:129516800-129521000	Strong transcription	HSMM	muscle
47	chr7:129517000-129519800	Strong transcription	NH-A	brain
48	chr7:129517000-129520800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr7:129517000-129521000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:129517200-129520800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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