Variant report

Variant	rs72829936
Chromosome Location	chr17:34060115-34060116
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	chr17:34060081-34060600	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:34059994-34060122	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr17:34059319-34060143	HEK293-T-REx	kidney:	n/a	chr17:34059822-34059831 chr17:34059957-34059966

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34058248..34060663-chr17:34061647..34063721,2	K562	blood:

Variant related genes	Relation type
RASL10B	TF binding region
ENSG00000141150	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10438814	0.85[EUR][1000 genomes]
rs1080352	0.85[EUR][1000 genomes]
rs11871358	0.96[EUR][1000 genomes]
rs1634683	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17638867	0.87[EUR][1000 genomes]
rs178736	1.00[AFR][1000 genomes]
rs188959	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2011528	0.83[EUR][1000 genomes]
rs2011897	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs225244	0.80[EUR][1000 genomes]
rs225246	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs225249	0.80[EUR][1000 genomes]
rs225250	0.80[EUR][1000 genomes]
rs225252	0.80[EUR][1000 genomes]
rs225256	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs225257	0.80[EUR][1000 genomes]
rs225261	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs225264	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs225265	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs225267	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs225268	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs225270	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs225271	0.85[EUR][1000 genomes]
rs225274	0.85[EUR][1000 genomes]
rs225275	0.83[EUR][1000 genomes]
rs225276	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs225278	0.85[EUR][1000 genomes]
rs225279	0.85[EUR][1000 genomes]
rs225283	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs225286	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs225288	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs225298	0.80[EUR][1000 genomes]
rs225305	0.80[EUR][1000 genomes]
rs226084	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs226087	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs226089	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs226090	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2376177	0.80[EUR][1000 genomes]
rs2428464	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2523114	0.85[EUR][1000 genomes]
rs2523116	0.85[EUR][1000 genomes]
rs2626625	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2626626	0.85[EUR][1000 genomes]
rs3859282	0.85[EUR][1000 genomes]
rs3859284	0.85[EUR][1000 genomes]
rs3890900	0.80[EUR][1000 genomes]
rs4251726	1.00[AFR][1000 genomes]
rs4795086	0.82[EUR][1000 genomes]
rs4796098	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4796100	0.85[EUR][1000 genomes]
rs4796101	0.85[EUR][1000 genomes]
rs4796104	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6505484	0.83[EUR][1000 genomes]
rs6505485	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6505486	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6505487	0.85[EUR][1000 genomes]
rs7208672	0.85[EUR][1000 genomes]
rs7210966	0.85[EUR][1000 genomes]
rs7211724	0.85[EUR][1000 genomes]
rs7213804	0.85[EUR][1000 genomes]
rs7214250	0.85[EUR][1000 genomes]
rs7214742	0.85[EUR][1000 genomes]
rs7217378	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7217533	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7221203	0.85[EUR][1000 genomes]
rs72828042	1.00[AFR][1000 genomes]
rs72828065	1.00[AFR][1000 genomes]
rs72829922	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72829923	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72829924	1.00[AFR][1000 genomes]
rs72829925	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72829927	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72829932	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72829933	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72829940	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs8064895	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8071584	0.85[EUR][1000 genomes]
rs8072676	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8074800	0.81[EUR][1000 genomes]
rs8077826	0.85[EUR][1000 genomes]
rs9303690	0.85[EUR][1000 genomes]
rs9649	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9912939	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34058600-34060400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:34058600-34064600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:34059200-34060200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:34059200-34060400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr17:34059400-34061000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:34059400-34062000	Weak transcription	Gastric	stomach
7	chr17:34059600-34060200	Enhancers	Fetal Heart	heart
8	chr17:34059600-34060400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:34059600-34060600	Enhancers	Stomach Smooth Muscle	stomach
10	chr17:34059600-34067200	Weak transcription	Spleen	Spleen
11	chr17:34059600-34068000	Weak transcription	Right Ventricle	heart
12	chr17:34059800-34060400	Enhancers	Fetal Intestine Small	intestine
13	chr17:34059800-34060800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr17:34059800-34061000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:34059800-34061000	Enhancers	Pancreas	Pancrea
16	chr17:34059800-34061800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:34059800-34061800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:34059800-34063400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:34059800-34065000	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:34060000-34060200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr17:34060000-34060200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr17:34060000-34060200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr17:34060000-34060200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr17:34060000-34060400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:34060000-34060400	Bivalent Enhancer	NHEK	skin
26	chr17:34060000-34060600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr17:34060000-34060600	Enhancers	HepG2	liver
28	chr17:34060000-34060800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr17:34060000-34061400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:34060000-34061400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr17:34060000-34062400	Weak transcription	Lung	lung
32	chr17:34060000-34064400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:34060000-34065200	Weak transcription	Brain Anterior Caudate	brain
34	chr17:34060000-34065600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:34060000-34065800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:34060000-34068000	Weak transcription	Right Atrium	heart

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