Variant report

Variant	rs35829705
Chromosome Location	chr17:37559994-37559995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37559443-37560166	K562	blood:	n/a	n/a
2	POLR2A	chr17:37559573-37560020	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr17:37559612-37560097	K562	blood:	n/a	n/a
4	POLR2A	chr17:37558795-37560077	K562	blood:	n/a	n/a
5	POLR2A	chr17:37559783-37560025	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:37558623-37560143	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr17:37558723-37560211	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr17:37559455-37560111	HepG2	liver:	n/a	n/a
9	FOSL2	chr17:37559412-37560112	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:37559501-37560073	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37556967..37560024-chr17:37605171..37608348,4	K562	blood:

Variant related genes	Relation type
FBXL20	TF binding region
ENSG00000125686	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11656614	1.00[CHD][hapmap]
rs12939229	1.00[EUR][1000 genomes]
rs12940109	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12940881	1.00[AMR][1000 genomes]
rs12940956	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12943974	1.00[EUR][1000 genomes]
rs12944316	1.00[EUR][1000 genomes]
rs12945363	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947238	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12953178	1.00[AMR][1000 genomes]
rs16968698	0.89[ASW][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.90[YRI][hapmap]
rs34170152	1.00[EUR][1000 genomes]
rs34362498	0.86[AFR][1000 genomes]
rs34518049	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs34821956	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34904106	1.00[AMR][1000 genomes]
rs34910003	1.00[AMR][1000 genomes]
rs34983824	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35152961	1.00[EUR][1000 genomes]
rs35194764	1.00[AMR][1000 genomes]
rs35269184	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35366897	1.00[ASW][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs35499078	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs35656573	1.00[AMR][1000 genomes]
rs35790121	1.00[EUR][1000 genomes]
rs35846515	1.00[EUR][1000 genomes]
rs35853230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35896550	1.00[AMR][1000 genomes]
rs36106822	1.00[EUR][1000 genomes]
rs57938769	1.00[AMR][1000 genomes]
rs59775294	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6503512	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369740	1.00[EUR][1000 genomes]
rs71369741	1.00[EUR][1000 genomes]
rs71369742	1.00[EUR][1000 genomes]
rs71369747	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369760	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs71369763	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369765	1.00[AMR][1000 genomes]
rs71369767	1.00[AMR][1000 genomes]
rs71577045	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7212530	1.00[AMR][1000 genomes]
rs7212780	1.00[AMR][1000 genomes]
rs7216254	1.00[CHD][hapmap]
rs7218668	1.00[ASW][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs7219611	1.00[ASW][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap]
rs7222063	0.90[YRI][hapmap]
rs7226222	0.96[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064372	1.00[ASW][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068102	0.89[ASW][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.90[YRI][hapmap]
rs8069155	1.00[CHD][hapmap]
rs8069194	1.00[ASW][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071061	1.00[EUR][1000 genomes]
rs8072801	1.00[ASW][hapmap];0.97[LWK][hapmap];0.81[MKK][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs8073144	1.00[ASW][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8074199	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs8076843	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8077259	1.00[ASW][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077629	0.90[ASW][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs8077822	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8079346	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8080830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8081144	1.00[ASW][hapmap];0.90[LWK][hapmap];0.90[YRI][hapmap]
rs8081561	1.00[AMR][1000 genomes]
rs9747574	1.00[AMR][1000 genomes]
rs9747666	1.00[AMR][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	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37558400-37566000	Weak transcription	Stomach Mucosa	stomach
2	chr17:37558400-37583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:37558600-37563600	Weak transcription	Fetal Brain Male	brain
4	chr17:37558800-37560400	Weak transcription	NHLF	lung
5	chr17:37558800-37560600	Weak transcription	HSMM	muscle
6	chr17:37558800-37562200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:37558800-37563200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:37558800-37563600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:37558800-37563600	Weak transcription	Aorta	Aorta
10	chr17:37558800-37563600	Weak transcription	Esophagus	oesophagus
11	chr17:37558800-37563600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:37558800-37563800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:37558800-37563800	Weak transcription	Spleen	Spleen
14	chr17:37558800-37564000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:37558800-37564000	Weak transcription	Gastric	stomach
16	chr17:37558800-37566400	Weak transcription	Small Intestine	intestine
17	chr17:37559000-37560600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:37559000-37561000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:37559000-37561000	Weak transcription	Brain Germinal Matrix	brain
20	chr17:37559000-37561000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:37559000-37561200	Weak transcription	Left Ventricle	heart
22	chr17:37559000-37561200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:37559000-37561400	Weak transcription	Psoas Muscle	Psoas
24	chr17:37559000-37562400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:37559000-37563000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr17:37559000-37563000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr17:37559000-37563800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr17:37559000-37563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:37559000-37563800	Weak transcription	Lung	lung
30	chr17:37559000-37563800	Weak transcription	Pancreas	Pancrea
31	chr17:37559000-37564000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:37559000-37564000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr17:37559000-37564000	Weak transcription	Colonic Mucosa	Colon
34	chr17:37559000-37564200	Weak transcription	Right Ventricle	heart
35	chr17:37559000-37564600	Weak transcription	Ovary	ovary
36	chr17:37559000-37566000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:37559000-37571000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:37559000-37571200	Weak transcription	Right Atrium	heart
39	chr17:37559000-37606600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr17:37559200-37560400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:37559200-37560600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:37559200-37560600	Weak transcription	NH-A	brain
43	chr17:37559200-37560600	Weak transcription	NHDF-Ad	bronchial
44	chr17:37559200-37560800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:37559200-37560800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:37559200-37560800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:37559200-37560800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr17:37559200-37560800	Weak transcription	K562	blood
49	chr17:37559200-37561000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:37559200-37561000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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