Variant report

Variant	rs17567733
Chromosome Location	chr7:111812213-111812214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111810986..111813749-chr7:111822095..111824188,2	K562	blood:
2	chr7:111811365..111813180-chr7:111817071..111819354,2	K562	blood:
3	chr7:111806209..111808307-chr7:111810046..111812849,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10238141	0.86[CEU][hapmap];0.92[CHB][hapmap]
rs10272126	0.85[CEU][hapmap]
rs10428921	0.95[ASN][1000 genomes]
rs10487346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953705	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953708	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs10953710	0.89[CEU][hapmap]
rs10953711	0.89[CEU][hapmap]
rs11534046	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11535292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11535293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11536571	0.81[AFR][1000 genomes]
rs11536572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11543793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11543795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11561997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11761807	0.85[CEU][hapmap]
rs11762310	0.98[ASN][1000 genomes]
rs11763588	0.85[CEU][hapmap]
rs11763768	1.00[CEU][hapmap]
rs11764180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11764346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764460	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767977	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768012	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768608	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs11768647	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769219	0.85[CEU][hapmap]
rs11770767	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs11770983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11772020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773393	0.89[CEU][hapmap]
rs11971191	0.95[ASN][1000 genomes]
rs13230061	1.00[CEU][hapmap]
rs16873374	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs17159328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159330	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17159336	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17159341	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17159389	0.85[CEU][hapmap]
rs17159446	0.86[CEU][hapmap]
rs17567768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523039	0.80[CEU][hapmap]
rs2708603	1.00[CEU][hapmap]
rs2708604	0.80[CEU][hapmap]
rs3801797	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807884	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs4464880	0.89[CEU][hapmap]
rs4730516	0.85[CHB][hapmap]
rs6955231	0.89[CEU][hapmap]
rs6978927	0.85[CEU][hapmap]
rs757196	0.85[CEU][hapmap]
rs7781245	0.83[CHB][hapmap]
rs7795336	0.89[CEU][hapmap];0.85[CHB][hapmap]

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	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111796000-111813800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:111800800-111813000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:111802600-111825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:111803000-111825400	Weak transcription	NHEK	skin
5	chr7:111803200-111813000	Weak transcription	Fetal Lung	lung
6	chr7:111803200-111813000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:111803400-111813600	Weak transcription	Left Ventricle	heart
8	chr7:111803600-111813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:111803600-111813400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:111803600-111820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:111803600-111825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:111804200-111813600	Weak transcription	Right Atrium	heart
13	chr7:111804200-111816200	Weak transcription	HepG2	liver
14	chr7:111804200-111816800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:111804800-111817400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:111805400-111813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:111805600-111813800	Weak transcription	Ovary	ovary
18	chr7:111807600-111813000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:111807600-111813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:111808800-111813000	Weak transcription	Brain Angular Gyrus	brain
21	chr7:111808800-111813200	Weak transcription	Right Ventricle	heart
22	chr7:111808800-111822800	Weak transcription	Pancreas	Pancrea
23	chr7:111809000-111813000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:111809200-111812600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:111809400-111812400	Weak transcription	HUVEC	blood vessel
26	chr7:111809800-111813000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:111810000-111812400	Weak transcription	Brain Anterior Caudate	brain
28	chr7:111810000-111813000	Weak transcription	Psoas Muscle	Psoas
29	chr7:111810000-111813600	Weak transcription	Lung	lung
30	chr7:111810400-111813000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:111811600-111812400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:111811600-111812400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:111811800-111812600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:111811800-111813000	Weak transcription	Fetal Kidney	kidney
35	chr7:111812000-111813000	Enhancers	Brain Hippocampus Middle	brain
36	chr7:111812000-111814800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:111812000-111824200	Enhancers	Brain Substantia Nigra	brain
38	chr7:111812200-111812400	Enhancers	Brain Germinal Matrix	brain
39	chr7:111812200-111812400	Weak transcription	Fetal Brain Male	brain
40	chr7:111812200-111813600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:111812200-111817000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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