Variant report

Variant	rs17718772
Chromosome Location	chr8:10648056-10648057
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10647998..10650941-chr8:10651803..10654879,3	K562	blood:
2	chr8:10515210..10517092-chr8:10648053..10650432,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10503409	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs10503410	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1106740	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11995539	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11998382	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12155811	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs12375394	0.95[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs12750	0.89[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1549792	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1549793	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17711248	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17712981	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17720365	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs17721089	1.00[CEU][hapmap]
rs17774331	0.95[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17774398	0.95[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17774627	0.95[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17776404	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17776427	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs17776497	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs17776622	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs17776946	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs2005310	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55637012	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55848210	0.82[EUR][1000 genomes]
rs56023918	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56046029	0.82[EUR][1000 genomes]
rs56109041	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56122299	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57348261	0.84[EUR][1000 genomes]
rs58193873	0.84[EUR][1000 genomes]
rs6984391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002757	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009920	0.85[CEU][hapmap]
rs714370	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73200740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73200742	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73208756	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73208757	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73208758	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73208762	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73208766	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73208769	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73208773	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73208775	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73208778	0.84[EUR][1000 genomes]
rs73208781	0.84[EUR][1000 genomes]
rs73208782	0.83[EUR][1000 genomes]
rs73208785	0.83[EUR][1000 genomes]
rs73208789	0.82[EUR][1000 genomes]
rs73208790	0.82[EUR][1000 genomes]
rs73208791	0.82[EUR][1000 genomes]
rs73208792	0.82[EUR][1000 genomes]
rs73208793	0.82[EUR][1000 genomes]
rs73208794	0.82[EUR][1000 genomes]
rs73208795	0.82[EUR][1000 genomes]
rs73209913	0.83[EUR][1000 genomes]
rs73209921	0.83[EUR][1000 genomes]
rs7817252	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs7817654	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7826036	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7827063	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7838335	0.85[CEU][hapmap]
rs7845731	0.81[EUR][1000 genomes]
rs891558	0.90[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs891559	0.90[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9650658	0.85[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9650659	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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
4	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS 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 miRNA	14 gene(s)	inside rSNPs	diseases
8	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1024806	chr8:10605438-10662555	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1031709	chr8:10610545-10657726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2764105	chr8:10610557-10657726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
14	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1023085	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv539470	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
18	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription 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	11 gene(s)	inside rSNPs	diseases
19	nsv1026230	chr8:10618928-10652924	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv539472	chr8:10618928-10652924	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
3	chr8:10619200-10656400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:10619400-10661600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:10621200-10662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:10621400-10656000	Weak transcription	HepG2	liver
8	chr8:10622800-10656000	Weak transcription	A549	lung
9	chr8:10623200-10650000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:10623400-10656800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:10623400-10662600	Weak transcription	Fetal Thymus	thymus
12	chr8:10623400-10662800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:10623400-10665000	Weak transcription	Fetal Intestine Large	intestine
14	chr8:10623600-10648800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:10623600-10667000	Weak transcription	Thymus	Thymus
16	chr8:10623800-10648800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:10623800-10649600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:10623800-10656800	Weak transcription	Gastric	stomach
19	chr8:10624000-10649600	Weak transcription	Pancreas	Pancrea
20	chr8:10635000-10652200	Weak transcription	Liver	Liver
21	chr8:10635400-10664400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:10635600-10656800	Weak transcription	Ovary	ovary
23	chr8:10639800-10648800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:10639800-10648800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:10639800-10649200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:10639800-10649600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:10640200-10669800	Weak transcription	Aorta	Aorta
28	chr8:10640400-10649800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:10640600-10662800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:10641200-10657000	Weak transcription	Psoas Muscle	Psoas
31	chr8:10641200-10665000	Weak transcription	Dnd41	blood
32	chr8:10641400-10662000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:10641600-10650400	Weak transcription	Hela-S3	cervix
34	chr8:10643600-10651200	Strong transcription	Primary T cells from cord blood	blood
35	chr8:10644200-10653600	Weak transcription	Right Atrium	heart
36	chr8:10644200-10661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:10644400-10649400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:10644400-10656800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:10645000-10670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:10645800-10648200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:10645800-10648200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:10645800-10648200	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:10645800-10648200	Enhancers	Fetal Muscle Leg	muscle
44	chr8:10646200-10648400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:10646200-10648400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:10646400-10648200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:10646400-10648200	Enhancers	Lung	lung
48	chr8:10646800-10648200	Enhancers	Brain Angular Gyrus	brain
49	chr8:10646800-10648200	Enhancers	HUVEC	blood vessel
50	chr8:10646800-10649600	Weak transcription	Esophagus	oesophagus

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