Variant report

Variant	rs2727494
Chromosome Location	chr7:129502271-129502272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:129502054-129502893	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129250908..129252633-chr7:129501756..129504305,2	K562	blood:
2	chr7:129501152..129503264-chr7:129513398..129515924,2	K562	blood:
3	chr7:129500721..129502707-chr7:129502747..129505225,2	K562	blood:
4	chr7:129502118..129504872-chr7:129519208..129521665,2	MCF-7	breast:
5	chr7:129493067..129496024-chr7:129500943..129503078,3	K562	blood:
6	chr7:129493067..129496024-chr7:129500943..129503078,2	K562	blood:

No data

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1725079	1.00[EUR][1000 genomes]
rs2255639	1.00[EUR][1000 genomes]
rs2631604	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2631609	0.91[AFR][1000 genomes]
rs2693722	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2693740	1.00[EUR][1000 genomes]
rs2693741	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693742	1.00[EUR][1000 genomes]
rs2693743	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693747	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2693748	1.00[EUR][1000 genomes]
rs2708641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727459	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727461	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727465	1.00[EUR][1000 genomes]
rs2727467	1.00[EUR][1000 genomes]
rs2727476	1.00[EUR][1000 genomes]
rs2727480	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727481	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727485	1.00[EUR][1000 genomes]
rs2727495	1.00[EUR][1000 genomes]
rs2727501	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2727506	0.81[AFR][1000 genomes]
rs73469781	1.00[EUR][1000 genomes]
rs73469795	1.00[EUR][1000 genomes]
rs7804954	1.00[EUR][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: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	chr7:129484200-129503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:129485400-129503800	Weak transcription	Lung	lung
6	chr7:129485600-129502400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:129486400-129502400	Weak transcription	Esophagus	oesophagus
8	chr7:129486400-129505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:129487200-129502400	Weak transcription	Ovary	ovary
10	chr7:129491600-129510000	Weak transcription	Fetal Intestine Large	intestine
11	chr7:129492000-129509200	Weak transcription	Fetal Intestine Small	intestine
12	chr7:129492200-129502400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:129492600-129502400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:129493800-129502400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:129493800-129502400	Weak transcription	HSMMtube	muscle
16	chr7:129493800-129510400	Weak transcription	Brain Germinal Matrix	brain
17	chr7:129494400-129502400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:129494400-129502400	Weak transcription	Gastric	stomach
19	chr7:129494400-129518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:129495400-129510400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:129495600-129502400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:129495600-129517000	Weak transcription	Fetal Lung	lung
23	chr7:129496200-129505600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:129496200-129509400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:129496400-129520400	Weak transcription	Fetal Brain Female	brain
26	chr7:129496800-129502600	Weak transcription	Fetal Stomach	stomach
27	chr7:129496800-129504000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:129496800-129509600	Weak transcription	HepG2	liver
29	chr7:129496800-129510200	Weak transcription	Fetal Thymus	thymus
30	chr7:129497000-129503200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:129497000-129503800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:129497000-129513400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:129497000-129515800	Weak transcription	Placenta	Placenta
34	chr7:129497000-129536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:129497200-129511200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:129497400-129503000	Weak transcription	Hela-S3	cervix
37	chr7:129497800-129503000	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:129497800-129505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:129498000-129502400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:129498000-129503800	Weak transcription	HSMM	muscle
41	chr7:129498200-129507200	Enhancers	Adipose Nuclei	Adipose
42	chr7:129498400-129503200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:129498400-129503600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:129498400-129506000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:129498600-129504400	Enhancers	K562	blood
46	chr7:129498600-129506800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:129499200-129504800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:129499200-129517200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:129499400-129502800	Enhancers	Fetal Heart	heart
50	chr7:129499400-129502800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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