Variant report

Variant	rs7558086
Chromosome Location	chr2:9750730-9750731
allele	C/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	POLR2A	chr2:9750614-9751127	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:9748514..9750852-chr2:9899112..9901012,2	K562	blood:
2	chr2:9749693..9751303-chr2:9753003..9754631,2	MCF-7	breast:
3	chr2:9695808..9697643-chr2:9749905..9751425,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207086	TF binding region
ENSG00000151694	Chromatin interaction
ENSG00000271855	Chromatin interaction

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

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

rs_ID	r²[population]
rs10169269	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10210225	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10929590	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10929591	0.90[ASN][1000 genomes]
rs1111976	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11674769	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11674777	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11887863	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11890807	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11902264	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12692388	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13415136	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1524667	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3791748	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3951115	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4668625	0.87[ASN][1000 genomes]
rs4669400	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62119427	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6432018	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6432019	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6432020	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6432023	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6432024	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6706227	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6720625	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6734469	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6745213	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7556678	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7556757	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7565646	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7569485	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7596929	0.87[AMR][1000 genomes];0.91[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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 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	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9741400-9752600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:9741400-9760000	Weak transcription	Fetal Kidney	kidney
4	chr2:9741600-9751000	Weak transcription	Fetal Intestine Large	intestine
5	chr2:9741800-9752600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:9742000-9753600	Weak transcription	Fetal Lung	lung
7	chr2:9742200-9751200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:9742200-9757000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:9742400-9753400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:9742800-9752400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:9742800-9757800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:9744600-9755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:9744800-9766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:9746800-9752800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:9747600-9751600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:9747800-9751400	Enhancers	Fetal Heart	heart
17	chr2:9747800-9760200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:9748000-9757000	Enhancers	Brain Hippocampus Middle	brain
19	chr2:9748600-9750800	Weak transcription	Ovary	ovary
20	chr2:9748600-9750800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:9748600-9751400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:9748600-9753000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:9748600-9755000	Weak transcription	Fetal Stomach	stomach
24	chr2:9748600-9756400	Enhancers	Brain Substantia Nigra	brain
25	chr2:9748600-9765600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:9748600-9766600	Weak transcription	Aorta	Aorta
27	chr2:9748600-9767600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:9748800-9751000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:9748800-9751000	Enhancers	A549	lung
30	chr2:9748800-9751000	Weak transcription	NH-A	brain
31	chr2:9748800-9751200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:9748800-9751200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:9748800-9751400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:9748800-9751400	Weak transcription	Right Ventricle	heart
35	chr2:9748800-9751800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:9748800-9752000	Weak transcription	Right Atrium	heart
37	chr2:9748800-9752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:9748800-9752200	Weak transcription	Placenta	Placenta
39	chr2:9748800-9752400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:9748800-9752600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:9748800-9752600	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:9748800-9752800	Weak transcription	HMEC	breast
43	chr2:9748800-9753000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:9748800-9753600	Weak transcription	HSMMtube	muscle
45	chr2:9748800-9758800	Weak transcription	Thymus	Thymus
46	chr2:9748800-9761200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:9748800-9763400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:9749000-9751000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:9749000-9751000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:9749000-9751000	Weak transcription	Psoas Muscle	Psoas

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