Variant report

Variant	rs4727558
Chromosome Location	chr7:102581511-102581512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102576586..102579076-chr7:102580024..102585100,6	K562	blood:

Variant related genes	Relation type
ENSG00000128606	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10236090	0.89[AFR][1000 genomes]
rs10240915	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs10259205	1.00[ASW][hapmap];0.96[LWK][hapmap];0.94[MKK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268849	1.00[MEX][hapmap]
rs10278727	0.85[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap]
rs10808121	0.84[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]
rs1100047	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11560367	1.00[MEX][hapmap]
rs12671524	1.00[AMR][1000 genomes]
rs13242079	1.00[MEX][hapmap]
rs1404213	1.00[MEX][hapmap]
rs1477160	1.00[MEX][hapmap]
rs1543987	1.00[MEX][hapmap];0.83[MKK][hapmap]
rs1916990	1.00[AMR][1000 genomes]
rs1968199	1.00[MEX][hapmap]
rs1969429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2041949	1.00[MEX][hapmap]
rs2140621	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2177550	0.84[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[AMR][1000 genomes]
rs2193418	1.00[MEX][hapmap]
rs28393249	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2898638	1.00[ASW][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181009	1.00[MEX][hapmap]
rs4255065	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4576360	0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]
rs4727561	1.00[MEX][hapmap]
rs4729872	1.00[MEX][hapmap]
rs6465883	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6465888	0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]
rs6465890	1.00[MEX][hapmap]
rs6950177	1.00[MEX][hapmap]
rs6958533	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6962336	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973702	1.00[MEX][hapmap]
rs6977206	1.00[MEX][hapmap]
rs7341515	0.89[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap]
rs7783856	1.00[MEX][hapmap]
rs7784337	1.00[MEX][hapmap]
rs7805950	0.84[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]
rs7806136	1.00[MEX][hapmap]
rs7806691	1.00[MEX][hapmap];0.86[MKK][hapmap]
rs7809075	0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs847650	0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap]
rs847653	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847655	1.00[AMR][1000 genomes]
rs847657	0.96[AFR][1000 genomes]
rs864709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102571600-102581800	Weak transcription	Fetal Intestine Small	intestine
2	chr7:102573800-102591400	Weak transcription	Pancreas	Pancrea
3	chr7:102574000-102592200	Weak transcription	Fetal Intestine Large	intestine
4	chr7:102574600-102594400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:102575000-102584400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:102575000-102586000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:102575000-102586800	Weak transcription	NHLF	lung
8	chr7:102575400-102587000	Strong transcription	NH-A	brain
9	chr7:102575600-102581600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:102575600-102583000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:102575600-102585200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:102575600-102586800	Weak transcription	Osteobl	bone
13	chr7:102576800-102582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:102576800-102582400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:102576800-102582400	Weak transcription	NHDF-Ad	bronchial
16	chr7:102576800-102584000	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:102576800-102584200	Weak transcription	Aorta	Aorta
18	chr7:102577000-102582400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:102577000-102582800	Weak transcription	Right Atrium	heart
20	chr7:102577200-102582400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:102577400-102582400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:102577600-102587400	Weak transcription	Fetal Kidney	kidney
23	chr7:102577800-102586400	Weak transcription	Fetal Brain Male	brain
24	chr7:102578400-102584000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:102579000-102585800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:102579400-102582200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:102579600-102581800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:102579600-102582400	Weak transcription	Stomach Mucosa	stomach
29	chr7:102579600-102587200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:102579600-102588600	Strong transcription	HSMM	muscle
31	chr7:102579800-102581600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:102579800-102581800	Weak transcription	Fetal Stomach	stomach
33	chr7:102579800-102582000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:102579800-102582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:102579800-102582400	Strong transcription	Fetal Lung	lung
36	chr7:102579800-102582800	Weak transcription	Psoas Muscle	Psoas
37	chr7:102579800-102583600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:102579800-102583600	Weak transcription	K562	blood
39	chr7:102579800-102584000	Weak transcription	Ovary	ovary
40	chr7:102579800-102584200	Weak transcription	HSMMtube	muscle
41	chr7:102579800-102586800	Weak transcription	Left Ventricle	heart
42	chr7:102580000-102581800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:102580200-102581600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:102580200-102587400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:102580400-102588200	Weak transcription	HUVEC	blood vessel
46	chr7:102580800-102585600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:102581000-102581600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:102581000-102582200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:102581000-102582200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:102581000-102584000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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