Variant report

Variant	rs73990290
Chromosome Location	chr17:34056052-34056053
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	chr17:34053798-34057239	K562	blood:	n/a	n/a
2	POLR2A	chr17:34054107-34057401	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr17:34056004-34056180	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr17:34056005-34056291	K562	blood:	n/a	n/a
5	POLR2A	chr17:34055304-34056986	A549	lung:	n/a	n/a
6	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: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55864203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56101728	1.00[AMR][1000 genomes]
rs56118006	1.00[AMR][1000 genomes]
rs60575561	1.00[AMR][1000 genomes]
rs60582120	0.94[AFR][1000 genomes]
rs60841383	0.81[AFR][1000 genomes]
rs61560017	1.00[AFR][1000 genomes]
rs73990212	0.94[AFR][1000 genomes]
rs73990221	0.81[AFR][1000 genomes]
rs73990224	0.81[AFR][1000 genomes]
rs73990261	1.00[AFR][1000 genomes]
rs73990268	0.87[AFR][1000 genomes]
rs73990291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73990295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73992831	1.00[AMR][1000 genomes]
rs73992847	1.00[AMR][1000 genomes]
rs73992850	1.00[AMR][1000 genomes]
rs73992855	1.00[AMR][1000 genomes]
rs73992856	1.00[AMR][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	chr17:34024200-34056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:34035400-34056200	Strong transcription	A549	lung
3	chr17:34045000-34058000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:34046600-34056200	Strong transcription	HMEC	breast
5	chr17:34052200-34057800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:34052400-34057600	Weak transcription	Brain Substantia Nigra	brain
7	chr17:34052600-34058600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr17:34052800-34056600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:34052800-34057600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr17:34052800-34057800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:34052800-34058000	Weak transcription	Fetal Brain Male	brain
12	chr17:34052800-34058200	Weak transcription	Aorta	Aorta
13	chr17:34053000-34057600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:34053000-34057800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr17:34053000-34058200	Weak transcription	Colonic Mucosa	Colon
16	chr17:34053000-34058200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr17:34053000-34058200	Weak transcription	K562	blood
18	chr17:34053200-34056200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:34053200-34056600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr17:34053200-34057600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr17:34053200-34057600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:34053200-34057600	Weak transcription	Brain Hippocampus Middle	brain
23	chr17:34053200-34057600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:34053200-34057800	Weak transcription	Brain Germinal Matrix	brain
25	chr17:34053200-34057800	Weak transcription	Colon Smooth Muscle	Colon
26	chr17:34053200-34057800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:34053600-34057800	Weak transcription	NHEK	skin
28	chr17:34053800-34056200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:34053800-34056200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr17:34054200-34056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:34054200-34057600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr17:34054200-34057600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:34054200-34057600	Weak transcription	Right Ventricle	heart
34	chr17:34054200-34057600	Weak transcription	HepG2	liver
35	chr17:34054200-34058000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:34054200-34058000	Weak transcription	HSMM	muscle
37	chr17:34054200-34058200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:34054400-34056200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr17:34054400-34056800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr17:34054400-34057600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr17:34054400-34057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:34054400-34057800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:34054400-34057800	Weak transcription	Fetal Thymus	thymus
44	chr17:34054400-34057800	Weak transcription	Gastric	stomach
45	chr17:34054400-34058000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:34054400-34058000	Weak transcription	Ovary	ovary
47	chr17:34054400-34058000	Weak transcription	Small Intestine	intestine
48	chr17:34054400-34058000	Weak transcription	Stomach Mucosa	stomach
49	chr17:34054400-34058000	Weak transcription	NHLF	lung
50	chr17:34054400-34058200	Weak transcription	GM12878-XiMat	blood

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