Variant report

Variant	rs72829933
Chromosome Location	chr17:34056406-34056407
allele	C/T
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	chr17:34053798-34057239	K562	blood:	n/a	n/a
2	CEBPB	chr17:34056284-34056694	H1-hESC	embryonic stem cell:	n/a	chr17:34056451-34056462
3	JUND	chr17:34056322-34056726	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr17:34056299-34056595	A549	lung:	n/a	chr17:34056451-34056462
5	JUN	chr17:34056380-34056551	HepG2	liver:	n/a	chr17:34056448-34056461
6	CEBPB	chr17:34056304-34056617	K562	blood:	n/a	chr17:34056451-34056462
7	POLR2A	chr17:34054107-34057401	PANC-1	pancreas:	n/a	n/a
8	EP300	chr17:34056369-34057164	ECC-1	luminal epithelium:	n/a	chr17:34056448-34056462
9	USF1	chr17:34056300-34056693	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr17:34056308-34056621	HepG2	liver:	n/a	chr17:34056451-34056462
11	CEBPB	chr17:34056299-34056615	Hela-S3	cervix:	n/a	chr17:34056451-34056462
12	ZNF263	chr17:34056284-34057221	HEK293-T-REx	kidney:	n/a	n/a
13	CEBPB	chr17:34056282-34056626	IMR90	lung:	n/a	chr17:34056451-34056462
14	USF1	chr17:34056350-34056565	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr17:34056293-34056567	K562	blood:	n/a	chr17:34056451-34056462
16	POLR2A	chr17:34055304-34056986	A549	lung:	n/a	n/a
17	SRF	chr17:34056388-34057044	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr17:34055990-34056555	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34048477..34051803-chr17:34054688..34058128,3	K562	blood:

Variant related genes	Relation type
RASL10B	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10438814	0.90[EUR][1000 genomes]
rs1080352	0.90[EUR][1000 genomes]
rs11871358	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1634683	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17638867	0.94[EUR][1000 genomes]
rs178736	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs188959	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2011528	0.89[EUR][1000 genomes]
rs2011897	0.97[EUR][1000 genomes]
rs225244	0.86[EUR][1000 genomes]
rs225246	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs225248	0.81[EUR][1000 genomes]
rs225249	0.86[EUR][1000 genomes]
rs225250	0.86[EUR][1000 genomes]
rs225252	0.86[EUR][1000 genomes]
rs225256	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs225257	0.86[EUR][1000 genomes]
rs225258	0.84[EUR][1000 genomes]
rs225260	0.81[EUR][1000 genomes]
rs225261	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs225264	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs225265	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs225266	0.82[EUR][1000 genomes]
rs225267	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs225268	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs225270	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs225271	0.90[EUR][1000 genomes]
rs225274	0.90[EUR][1000 genomes]
rs225275	0.89[EUR][1000 genomes]
rs225276	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs225278	0.90[EUR][1000 genomes]
rs225279	0.91[EUR][1000 genomes]
rs225283	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs225286	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs225287	0.84[EUR][1000 genomes]
rs225288	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs225294	0.84[EUR][1000 genomes]
rs225296	0.84[EUR][1000 genomes]
rs225298	0.86[EUR][1000 genomes]
rs225300	0.84[EUR][1000 genomes]
rs225303	0.83[EUR][1000 genomes]
rs225305	0.86[EUR][1000 genomes]
rs225307	0.84[EUR][1000 genomes]
rs225308	0.84[EUR][1000 genomes]
rs226084	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs226087	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs226089	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs226090	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2376177	0.86[EUR][1000 genomes]
rs2428464	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2523114	0.90[EUR][1000 genomes]
rs2523116	0.90[EUR][1000 genomes]
rs2523117	0.81[EUR][1000 genomes]
rs2626625	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2626626	0.90[EUR][1000 genomes]
rs3859282	0.90[EUR][1000 genomes]
rs3859284	0.90[EUR][1000 genomes]
rs3890900	0.82[EUR][1000 genomes]
rs4251726	1.00[AFR][1000 genomes]
rs4795086	0.87[EUR][1000 genomes]
rs4796098	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4796100	0.90[EUR][1000 genomes]
rs4796101	0.90[EUR][1000 genomes]
rs4796104	0.92[EUR][1000 genomes]
rs6505484	0.89[EUR][1000 genomes]
rs6505485	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6505486	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6505487	0.90[EUR][1000 genomes]
rs7208672	0.90[EUR][1000 genomes]
rs7210966	0.90[EUR][1000 genomes]
rs7211724	0.90[EUR][1000 genomes]
rs7213804	0.90[EUR][1000 genomes]
rs7214250	0.90[EUR][1000 genomes]
rs7214742	0.90[EUR][1000 genomes]
rs7217378	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7217533	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7221203	0.90[EUR][1000 genomes]
rs72828042	1.00[AFR][1000 genomes]
rs72828065	1.00[AFR][1000 genomes]
rs72829922	0.92[EUR][1000 genomes]
rs72829923	0.92[EUR][1000 genomes]
rs72829924	1.00[AFR][1000 genomes]
rs72829925	0.96[EUR][1000 genomes]
rs72829927	0.96[EUR][1000 genomes]
rs72829932	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72829936	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72829940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8064895	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs8071584	0.90[EUR][1000 genomes]
rs8072676	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs8074800	0.86[EUR][1000 genomes]
rs8077826	0.90[EUR][1000 genomes]
rs9303690	0.90[EUR][1000 genomes]
rs9649	0.96[EUR][1000 genomes]
rs9912939	1.00[AFR][1000 genomes];0.90[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34045000-34058000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:34052200-34057800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:34052400-34057600	Weak transcription	Brain Substantia Nigra	brain
4	chr17:34052600-34058600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:34052800-34056600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:34052800-34057600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:34052800-34057800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:34052800-34058000	Weak transcription	Fetal Brain Male	brain
9	chr17:34052800-34058200	Weak transcription	Aorta	Aorta
10	chr17:34053000-34057600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:34053000-34057800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr17:34053000-34058200	Weak transcription	Colonic Mucosa	Colon
13	chr17:34053000-34058200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:34053000-34058200	Weak transcription	K562	blood
15	chr17:34053200-34056600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:34053200-34057600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr17:34053200-34057600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr17:34053200-34057600	Weak transcription	Brain Hippocampus Middle	brain
19	chr17:34053200-34057600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:34053200-34057800	Weak transcription	Brain Germinal Matrix	brain
21	chr17:34053200-34057800	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:34053200-34057800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr17:34053600-34057800	Weak transcription	NHEK	skin
24	chr17:34054200-34057600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:34054200-34057600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:34054200-34057600	Weak transcription	Right Ventricle	heart
27	chr17:34054200-34057600	Weak transcription	HepG2	liver
28	chr17:34054200-34058000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr17:34054200-34058000	Weak transcription	HSMM	muscle
30	chr17:34054200-34058200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:34054400-34056800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:34054400-34057600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr17:34054400-34057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:34054400-34057800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:34054400-34057800	Weak transcription	Fetal Thymus	thymus
36	chr17:34054400-34057800	Weak transcription	Gastric	stomach
37	chr17:34054400-34058000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:34054400-34058000	Weak transcription	Ovary	ovary
39	chr17:34054400-34058000	Weak transcription	Small Intestine	intestine
40	chr17:34054400-34058000	Weak transcription	Stomach Mucosa	stomach
41	chr17:34054400-34058000	Weak transcription	NHLF	lung
42	chr17:34054400-34058200	Weak transcription	GM12878-XiMat	blood
43	chr17:34054400-34058200	Weak transcription	HSMMtube	muscle
44	chr17:34054600-34057600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr17:34054600-34057600	Weak transcription	Left Ventricle	heart
46	chr17:34054600-34057600	Weak transcription	Psoas Muscle	Psoas
47	chr17:34054600-34058000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr17:34054600-34058200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr17:34054800-34057000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr17:34054800-34057600	Weak transcription	Dnd41	blood

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