Variant report

Variant	rs7218668
Chromosome Location	chr17:37603995-37603996
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37595282..37597201-chr17:37602634..37604222,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12940109	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12940881	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12940956	1.00[AMR][1000 genomes]
rs12943456	1.00[EUR][1000 genomes]
rs12944298	1.00[EUR][1000 genomes]
rs12945363	1.00[AMR][1000 genomes]
rs12947238	1.00[AMR][1000 genomes]
rs12950784	1.00[EUR][1000 genomes]
rs12953178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16968698	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs34518049	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs34821956	1.00[AMR][1000 genomes]
rs34904106	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34910003	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34983824	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35194764	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35269184	1.00[AMR][1000 genomes]
rs35366897	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35499078	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35550184	1.00[EUR][1000 genomes]
rs35598597	1.00[EUR][1000 genomes]
rs35656573	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35821333	1.00[EUR][1000 genomes]
rs35829705	1.00[ASW][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs35853230	1.00[AMR][1000 genomes]
rs35896550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4988981	1.00[EUR][1000 genomes]
rs57059040	1.00[EUR][1000 genomes]
rs57938769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58452873	1.00[EUR][1000 genomes]
rs59775294	1.00[AMR][1000 genomes]
rs6503512	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs71369747	0.83[AMR][1000 genomes]
rs71369760	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369763	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369773	1.00[EUR][1000 genomes]
rs71577045	0.83[AMR][1000 genomes]
rs7212530	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7212780	1.00[AMR][1000 genomes]
rs7219611	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7219683	1.00[EUR][1000 genomes]
rs7226222	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064372	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8068102	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs8069194	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8072801	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs8073144	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8074199	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8076843	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs8077259	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8077629	0.90[ASW][hapmap];0.91[YRI][hapmap]
rs8077822	1.00[AMR][1000 genomes]
rs8079346	1.00[AMR][1000 genomes]
rs8080830	1.00[AMR][1000 genomes]
rs8081144	1.00[ASW][hapmap];0.93[LWK][hapmap];0.95[YRI][hapmap]
rs8081561	1.00[AMR][1000 genomes]
rs9747574	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9747666	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr17:37559000-37606600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:37560800-37605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:37560800-37605400	Strong transcription	Fetal Thymus	thymus
4	chr17:37560800-37605600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:37561000-37604800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr17:37561000-37604800	Strong transcription	Placenta	Placenta
7	chr17:37561000-37605200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:37561000-37605400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:37561200-37604400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:37561200-37604600	Strong transcription	Liver	Liver
11	chr17:37561200-37605000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:37561200-37605200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:37561400-37604800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr17:37561400-37604800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:37561400-37605000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:37561600-37604600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr17:37561600-37605600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:37561800-37604400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:37562000-37604400	Strong transcription	Adipose Nuclei	Adipose
20	chr17:37562000-37604600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:37562000-37604600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr17:37562200-37604200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:37562200-37604400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:37562200-37604600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:37562400-37604200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:37562400-37604600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:37562400-37604600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:37562600-37604200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:37563000-37604600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:37563000-37604800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:37563800-37605600	Strong transcription	Fetal Stomach	stomach
32	chr17:37563800-37606000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:37564000-37604400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:37564000-37605200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr17:37564000-37605400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:37566800-37606400	Weak transcription	Stomach Mucosa	stomach
37	chr17:37568600-37604200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:37568800-37604200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:37569000-37605200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr17:37571600-37606600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr17:37577800-37604800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr17:37578600-37604600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:37578800-37604000	Strong transcription	Dnd41	blood
44	chr17:37579000-37604000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr17:37579200-37604600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr17:37579200-37605000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr17:37579400-37605600	Strong transcription	Fetal Intestine Large	intestine
48	chr17:37584200-37606600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr17:37588200-37606400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:37589800-37604000	Strong transcription	HepG2	liver

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