Variant report

Variant	rs10273782
Chromosome Location	chr7:129503460-129503461
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:129502956-129503672	SK-N-SH	brain:	n/a	chr7:129503321-129503333
2	GATA3	chr7:129503441-129503497	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:129250908..129252633-chr7:129501756..129504305,2	K562	blood:
2	chr7:129502118..129504872-chr7:129519208..129521665,2	MCF-7	breast:
3	chr7:129500721..129502707-chr7:129502747..129505225,2	K562	blood:

Variant related genes	Relation type
UBE2H	TF binding region
ENSG00000273329	Chromatin interaction
ENSG00000106459	Chromatin interaction
ENSG00000186591	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10216157	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240142	0.90[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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261367	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1046691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10480805	1.00[JPT][hapmap]
rs10500121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526323	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17639187	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2037720	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28604351	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58857902	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62489374	0.87[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	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491504	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491537	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959075	0.81[AFR][1000 genomes]
rs6962745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6979056	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161641	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789336	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803795	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656387	0.95[YRI][hapmap]

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: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	chr7:129481400-129510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:129485400-129503800	Weak transcription	Lung	lung
5	chr7:129486400-129505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:129491600-129510000	Weak transcription	Fetal Intestine Large	intestine
7	chr7:129492000-129509200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:129493800-129510400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:129494400-129518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:129495400-129510400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:129495600-129517000	Weak transcription	Fetal Lung	lung
12	chr7:129496200-129505600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:129496200-129509400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:129496400-129520400	Weak transcription	Fetal Brain Female	brain
15	chr7:129496800-129504000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:129496800-129509600	Weak transcription	HepG2	liver
17	chr7:129496800-129510200	Weak transcription	Fetal Thymus	thymus
18	chr7:129497000-129503800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:129497000-129513400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:129497000-129515800	Weak transcription	Placenta	Placenta
21	chr7:129497000-129536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:129497200-129511200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:129497800-129505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:129498000-129503800	Weak transcription	HSMM	muscle
25	chr7:129498200-129507200	Enhancers	Adipose Nuclei	Adipose
26	chr7:129498400-129503600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:129498400-129506000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:129498600-129504400	Enhancers	K562	blood
29	chr7:129498600-129506800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:129499200-129504800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:129499200-129517200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:129499600-129506000	Enhancers	Pancreas	Pancrea
33	chr7:129499800-129504200	Enhancers	GM12878-XiMat	blood
34	chr7:129499800-129509600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:129500000-129503800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:129500000-129503800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:129500000-129505000	Weak transcription	NHDF-Ad	bronchial
38	chr7:129500200-129503600	Weak transcription	HMEC	breast
39	chr7:129500200-129503800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:129500200-129504000	Weak transcription	NHEK	skin
41	chr7:129500400-129504200	Enhancers	Liver	Liver
42	chr7:129500800-129504800	Enhancers	Right Atrium	heart
43	chr7:129500800-129505000	Weak transcription	A549	lung
44	chr7:129500800-129505400	Weak transcription	NHLF	lung
45	chr7:129501000-129504200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:129501200-129504200	Enhancers	Psoas Muscle	Psoas
47	chr7:129501200-129506600	Enhancers	Rectal Smooth Muscle	rectum
48	chr7:129501400-129503600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr7:129501400-129505400	Enhancers	Right Ventricle	heart
50	chr7:129501400-129506600	Enhancers	Colon Smooth Muscle	Colon

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