Variant report

Variant	rs1238698
Chromosome Location	chr7:112429855-112429856
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112428147..112430239-chr7:112752255..112754378,2	K562	blood:
2	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
3	chr7:112347421..112349959-chr7:112428528..112430366,2	MCF-7	breast:
4	chr7:112428924..112430644-chr7:112579193..112581843,2	K562	blood:
5	chr7:112421571..112428519-chr7:112428661..112431818,11	MCF-7	breast:
6	chr7:112421681..112427261-chr7:112427948..112432124,6	MCF-7	breast:
7	chr7:112428694..112430308-chr7:112506814..112508918,2	K562	blood:
8	chr7:112389614..112392612-chr7:112427790..112430309,2	K562	blood:
9	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164603	Chromatin interaction
ENSG00000146802	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10216223	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10238492	0.82[CHB][hapmap]
rs10247759	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10249701	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10269793	0.90[ASN][1000 genomes]
rs10271752	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10273589	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10275208	0.82[CHB][hapmap]
rs10280638	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1227155	0.90[ASN][1000 genomes]
rs1227158	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1227159	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1227163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1227168	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227171	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227172	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227174	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227176	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227177	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227178	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227181	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1227183	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227190	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535487	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs12539085	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap]
rs1530756	0.82[CHB][hapmap]
rs1547554	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1615468	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17160078	0.82[CHB][hapmap]
rs1718944	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1718955	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718957	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718961	0.81[ASN][1000 genomes]
rs1718967	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1718969	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796491	0.82[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796492	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796493	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796512	0.81[ASN][1000 genomes]
rs1796516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922907	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1996843	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2028028	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2396570	0.82[CHB][hapmap]
rs2396574	0.85[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs2457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687267	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2708295	0.81[ASN][1000 genomes]
rs2708296	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs3957315	0.82[CHB][hapmap]
rs3997335	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs494324	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs548994	0.94[CEU][hapmap]
rs549688	0.84[ASW][hapmap];0.91[CEU][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap]
rs552304	0.84[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap]
rs564494	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6466421	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660743	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs672911	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs685259	0.84[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap]
rs6944843	0.82[CHB][hapmap]
rs6945635	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6946335	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6948575	0.85[CEU][hapmap];0.89[GIH][hapmap];0.89[TSI][hapmap]
rs6948876	0.90[ASN][1000 genomes]
rs6953522	0.85[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs6955834	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970266	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs726593	0.95[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7777973	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7778135	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7781871	0.82[CHB][hapmap]
rs7789772	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806781	1.00[CHB][hapmap]
rs7808616	0.82[CHB][hapmap]
rs821783	0.84[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs821785	0.84[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap]
rs821787	0.84[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap]
rs9649356	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9655816	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9969347	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1238698	CAV2	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112428400-112430600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:112428600-112430000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:112428600-112431200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:112428800-112430200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:112428800-112430800	Active TSS	Aorta	Aorta
6	chr7:112428800-112430800	Active TSS	Hela-S3	cervix
7	chr7:112428800-112431000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:112428800-112431000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:112428800-112431000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:112428800-112431000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:112428800-112431000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:112428800-112431000	Active TSS	Left Ventricle	heart
13	chr7:112429000-112430000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr7:112429000-112430000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr7:112429000-112430000	Flanking Active TSS	Fetal Brain Female	brain
16	chr7:112429000-112430000	Flanking Active TSS	HUVEC	blood vessel
17	chr7:112429000-112430000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:112429000-112430400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr7:112429000-112430600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:112429000-112430600	Active TSS	Esophagus	oesophagus
21	chr7:112429000-112430600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr7:112429000-112430800	Active TSS	A549	lung
23	chr7:112429000-112430800	Active TSS	HSMMtube	muscle
24	chr7:112429000-112431000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:112429000-112431000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:112429000-112431000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr7:112429000-112431200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:112429200-112430200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr7:112429200-112430600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:112429200-112430600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr7:112429200-112430600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr7:112429200-112430600	Active TSS	GM12878-XiMat	blood
33	chr7:112429200-112430600	Active TSS	NHDF-Ad	bronchial
34	chr7:112429200-112430800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:112429200-112430800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:112429200-112430800	Active TSS	Ovary	ovary
37	chr7:112429200-112431000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:112429200-112431000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:112429200-112431000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:112429200-112431000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr7:112429200-112431000	Active TSS	Colonic Mucosa	Colon
42	chr7:112429200-112431000	Active TSS	Fetal Intestine Small	intestine
43	chr7:112429200-112431000	Active TSS	Fetal Kidney	kidney
44	chr7:112429200-112431000	Active TSS	Fetal Muscle Trunk	muscle
45	chr7:112429200-112431000	Active TSS	Rectal Smooth Muscle	rectum
46	chr7:112429200-112431000	Active TSS	HMEC	breast
47	chr7:112429200-112431000	Active TSS	HSMM	muscle
48	chr7:112429200-112431000	Active TSS	NHLF	lung
49	chr7:112429400-112430000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr7:112429400-112430400	Active TSS	Thymus	Thymus

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