Variant report

Variant	rs5014150
Chromosome Location	chr7:22229685-22229686
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	chr7:22223577..22226016-chr7:22227692..22230056,2	MCF-7	breast:
2	chr7:22225325..22228215-chr7:22229043..22231060,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10228358	1.00[ASN][1000 genomes]
rs10242092	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268307	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268516	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271658	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282222	1.00[CHB][hapmap]
rs10950895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763898	1.00[CHB][hapmap]
rs12530484	1.00[CHB][hapmap]
rs12533150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223956	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981598	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079478	1.00[CHB][hapmap]
rs28411164	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435496	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450495	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587984	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28656168	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716840	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273945	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273948	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273951	0.96[EUR][1000 genomes]
rs41273957	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273963	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4291165	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4590334	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719686	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722102	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722104	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722105	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722108	1.00[CHB][hapmap];0.92[AFR][1000 genomes]
rs4722110	1.00[CHB][hapmap]
rs6461640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949461	1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960216	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965394	1.00[CHB][hapmap];0.92[AFR][1000 genomes]
rs6971344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808688	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886139	1.00[CHB][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	nsv606405	chr7:22202485-22235825	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22184600-22240600	Weak transcription	Colonic Mucosa	Colon
2	chr7:22190000-22232800	Weak transcription	Aorta	Aorta
3	chr7:22193800-22232000	Weak transcription	Adipose Nuclei	Adipose
4	chr7:22194400-22232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:22207000-22232000	Weak transcription	Fetal Stomach	stomach
6	chr7:22214400-22247400	Weak transcription	HUVEC	blood vessel
7	chr7:22214600-22232000	Weak transcription	Small Intestine	intestine
8	chr7:22214600-22232400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:22214800-22232600	Weak transcription	NHEK	skin
10	chr7:22215400-22232000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:22218800-22232000	Weak transcription	Thymus	Thymus
12	chr7:22219600-22234600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:22221800-22230200	Weak transcription	Fetal Brain Male	brain
14	chr7:22221800-22232400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:22221800-22233200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:22222200-22235200	Weak transcription	GM12878-XiMat	blood
17	chr7:22222800-22230200	Weak transcription	Fetal Brain Female	brain
18	chr7:22223200-22232400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:22223200-22242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:22223800-22234200	Weak transcription	HMEC	breast
21	chr7:22224000-22232600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:22224800-22229800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:22224800-22232400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:22225200-22231200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:22225200-22232000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:22225200-22233000	Strong transcription	Fetal Thymus	thymus
27	chr7:22225400-22230400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:22225400-22253600	Weak transcription	Stomach Mucosa	stomach
29	chr7:22225600-22231200	Weak transcription	Fetal Kidney	kidney
30	chr7:22225800-22232000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:22225800-22246800	Strong transcription	Dnd41	blood
32	chr7:22226600-22232600	Strong transcription	Fetal Intestine Large	intestine
33	chr7:22227000-22236800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr7:22227200-22231200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:22227200-22233400	Strong transcription	Lung	lung
36	chr7:22227400-22230200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:22227400-22245600	Strong transcription	HepG2	liver
38	chr7:22227600-22230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:22227600-22231000	Weak transcription	Esophagus	oesophagus
40	chr7:22227600-22232400	Weak transcription	Spleen	Spleen
41	chr7:22228000-22229800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:22228000-22233800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr7:22228400-22229800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:22228600-22230600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:22228800-22230000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:22228800-22230400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:22228800-22230400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr7:22228800-22232600	Weak transcription	Ovary	ovary
49	chr7:22228800-22233800	Active TSS	Brain Angular Gyrus	brain
50	chr7:22228800-22233800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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