Variant report

Variant	rs2727477
Chromosome Location	chr7:129539931-129539932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129536867..129540037-chr7:129542544..129546019,3	K562	blood:
2	chr7:129539098..129541114-chr7:129547726..129549879,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11765073	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1464973	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1471875	0.84[AFR][1000 genomes]
rs1725077	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1725078	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2402980	0.91[AFR][1000 genomes]
rs2631602	1.00[ASN][1000 genomes]
rs2631603	0.84[AFR][1000 genomes]
rs2631611	0.80[EUR][1000 genomes]
rs2693724	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2693725	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2708637	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2708649	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2727462	0.94[ASN][1000 genomes]
rs2727464	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2727482	0.91[AFR][1000 genomes]
rs2727483	1.00[ASN][1000 genomes]
rs2727487	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2727488	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2727489	0.85[ASN][1000 genomes]
rs2727490	0.97[ASN][1000 genomes]
rs2727492	0.93[ASN][1000 genomes]
rs2727499	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2727500	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2727502	0.80[EUR][1000 genomes]
rs2727507	0.83[AFR][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	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
2	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:129506000-129542800	Weak transcription	Small Intestine	intestine
4	chr7:129509600-129541000	Weak transcription	Spleen	Spleen
5	chr7:129510600-129541000	Weak transcription	Esophagus	oesophagus
6	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:129516200-129542800	Weak transcription	HSMMtube	muscle
8	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
9	chr7:129517400-129543800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:129518000-129545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:129518200-129542600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:129519400-129546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:129519600-129546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:129520800-129541400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:129520800-129545600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
19	chr7:129522000-129541000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:129522000-129548200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:129522600-129541000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:129522600-129542600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:129522600-129544600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:129522600-129547800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:129522600-129548400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:129522600-129548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:129523200-129541000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:129525400-129541000	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:129525400-129541000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:129526000-129548200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:129526400-129540800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:129526400-129540800	Weak transcription	NHLF	lung
33	chr7:129526600-129542600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:129527000-129541000	Weak transcription	Liver	Liver
35	chr7:129527200-129541000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr7:129527600-129541000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:129528400-129542200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:129529600-129542800	Weak transcription	K562	blood
39	chr7:129529800-129541000	Weak transcription	Fetal Lung	lung
40	chr7:129529800-129541000	Weak transcription	Lung	lung
41	chr7:129529800-129542400	Weak transcription	Right Ventricle	heart
42	chr7:129529800-129544400	Weak transcription	Right Atrium	heart
43	chr7:129529800-129545000	Weak transcription	Fetal Kidney	kidney
44	chr7:129529800-129545200	Weak transcription	Brain Anterior Caudate	brain
45	chr7:129529800-129546200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:129529800-129553400	Weak transcription	Brain Germinal Matrix	brain
47	chr7:129530000-129541000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:129530000-129543600	Weak transcription	Aorta	Aorta
49	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:129530800-129542400	Weak transcription	HepG2	liver

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