Variant report

Variant	rs723627
Chromosome Location	chr7:127967998-127967999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11069	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17151983	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151987	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151996	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17152000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152002	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402890	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41281728	1.00[EUR][1000 genomes]
rs41281731	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55667068	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913412	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56007906	1.00[EUR][1000 genomes]
rs6467170	0.98[EUR][1000 genomes]
rs6467174	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6952533	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6980001	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6980301	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228315	0.83[EUR][1000 genomes]
rs73230631	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230632	1.00[EUR][1000 genomes]
rs73230633	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230642	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230649	1.00[EUR][1000 genomes]
rs73230652	1.00[EUR][1000 genomes]
rs73230654	1.00[EUR][1000 genomes]
rs73230656	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230657	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230659	1.00[EUR][1000 genomes]
rs73721355	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721362	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7800186	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7804796	0.88[AMR][1000 genomes];0.98[EUR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
2	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
4	chr7:127940600-127980000	Strong transcription	Liver	Liver
5	chr7:127940800-127971400	Strong transcription	Fetal Brain Female	brain
6	chr7:127941600-127979600	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:127941600-127980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
10	chr7:127942600-127979600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:127943000-127969000	Strong transcription	Primary B cells from cord blood	blood
12	chr7:127943000-127979800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:127943000-127979800	Strong transcription	Fetal Intestine Large	intestine
14	chr7:127943000-127981200	Strong transcription	Dnd41	blood
15	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:127943200-127980400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr7:127943200-127981600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:127943400-127979400	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:127943400-127979800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:127943400-127980000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:127943400-127980000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:127943400-127980000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:127943400-127981400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr7:127943400-127981600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:127944400-127971600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:127944400-127980000	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr7:127944400-127980000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr7:127944400-127980200	Strong transcription	Placenta	Placenta
29	chr7:127944400-127980600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:127945200-127980000	Strong transcription	GM12878-XiMat	blood
31	chr7:127945400-127979200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:127945600-127971600	Strong transcription	NHEK	skin
33	chr7:127945600-127979400	Strong transcription	Brain Germinal Matrix	brain
34	chr7:127946000-127969400	Strong transcription	HUVEC	blood vessel
35	chr7:127949600-127978800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:127949600-127980000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:127949800-127969000	Strong transcription	Brain Angular Gyrus	brain
38	chr7:127949800-127969200	Strong transcription	A549	lung
39	chr7:127950000-127969000	Strong transcription	HMEC	breast
40	chr7:127952000-127979800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:127953800-127982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:127955600-127980000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:127955800-127982800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:127956400-127971000	Strong transcription	Thymus	Thymus
45	chr7:127956400-127978600	Strong transcription	Fetal Stomach	stomach
46	chr7:127956800-127970000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:127956800-127977400	Strong transcription	Ovary	ovary
48	chr7:127958000-127980600	Strong transcription	K562	blood
49	chr7:127958600-127968800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:127961400-127973600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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